ClinVar Miner

List of variants reported as likely benign for autosomal recessive limb-girdle muscular dystrophy type 2O by Invitae

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 598
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn) rs142485035 0.00119
NM_017739.4(POMGNT1):c.453G>A (p.Thr151=) rs146121135 0.00061
NM_017739.4(POMGNT1):c.421-7C>A rs189274856 0.00049
NM_017739.4(POMGNT1):c.534+15C>T rs141676863 0.00038
NM_017739.4(POMGNT1):c.486A>G (p.Leu162=) rs138330966 0.00034
NM_017739.4(POMGNT1):c.549C>T (p.Phe183=) rs140724142 0.00033
NM_017739.4(POMGNT1):c.1284+9G>C rs565797493 0.00026
NM_017739.4(POMGNT1):c.1649+19G>A rs200158493 0.00024
NM_017739.4(POMGNT1):c.1786-6C>T rs202028128 0.00024
NM_017739.4(POMGNT1):c.1070A>T (p.Gln357Leu) rs374871234 0.00021
NM_017739.4(POMGNT1):c.269G>A (p.Arg90His) rs139701867 0.00021
NM_017739.4(POMGNT1):c.1831C>T (p.Leu611=) rs367848204 0.00017
NM_017739.4(POMGNT1):c.1454G>A (p.Arg485His) rs544816408 0.00015
NM_017739.4(POMGNT1):c.796C>T (p.Arg266Trp) rs200363064 0.00015
NM_017739.4(POMGNT1):c.420G>A (p.Thr140=) rs146237009 0.00014
NM_017739.4(POMGNT1):c.7G>T (p.Asp3Tyr) rs201637813 0.00013
NM_017739.4(POMGNT1):c.1536T>C (p.Phe512=) rs367596859 0.00012
NM_017739.4(POMGNT1):c.960C>G (p.Arg320=) rs146933218 0.00012
NM_017739.4(POMGNT1):c.421-13_421-10dup rs772136218 0.00011
NM_017739.4(POMGNT1):c.426C>T (p.His142=) rs374384310 0.00011
NM_017739.4(POMGNT1):c.752-15G>A rs368317059 0.00011
NM_017739.4(POMGNT1):c.1285-6C>T rs377292905 0.00009
NM_017739.4(POMGNT1):c.747A>G (p.Ala249=) rs774008151 0.00009
NM_017739.4(POMGNT1):c.1299G>A (p.Thr433=) rs187954010 0.00007
NM_017739.4(POMGNT1):c.1605-8C>T rs535331969 0.00007
NM_017739.4(POMGNT1):c.266G>A (p.Arg89Gln) rs200042607 0.00007
NM_017739.4(POMGNT1):c.1111-6T>C rs751751349 0.00006
NM_017739.4(POMGNT1):c.1896-20T>A rs200416465 0.00006
NM_017739.4(POMGNT1):c.38T>C (p.Phe13Ser) rs377724143 0.00006
NM_017739.4(POMGNT1):c.129C>T (p.Ala43=) rs138950267 0.00005
NM_017739.4(POMGNT1):c.1540-6C>T rs770449394 0.00005
NM_017739.4(POMGNT1):c.1758C>T (p.Asp586=) rs376138855 0.00005
NM_017739.4(POMGNT1):c.752-7C>T rs767387934 0.00005
NM_017739.4(POMGNT1):c.1101C>T (p.Arg367=) rs775495503 0.00004
NM_017739.4(POMGNT1):c.1476C>A (p.Ile492=) rs375432782 0.00004
NM_017739.4(POMGNT1):c.1604+14G>A rs746108694 0.00004
NM_017739.4(POMGNT1):c.492C>T (p.Leu164=) rs562534688 0.00004
NM_017739.4(POMGNT1):c.751+10G>A rs200759272 0.00004
NM_017739.4(POMGNT1):c.951-12T>C rs753164362 0.00004
NM_017739.4(POMGNT1):c.99G>T (p.Arg33=) rs767852518 0.00004
NM_017739.4(POMGNT1):c.1284+8G>A rs761259999 0.00003
NM_017739.4(POMGNT1):c.1467G>A (p.Glu489=) rs760759400 0.00003
NM_017739.4(POMGNT1):c.1697T>C (p.Phe566Ser) rs765906814 0.00003
NM_017739.4(POMGNT1):c.1738C>A (p.Arg580=) rs386834018 0.00003
NM_017739.4(POMGNT1):c.1786-5A>T rs757014219 0.00003
NM_017739.4(POMGNT1):c.319C>A (p.Arg107Ser) rs375420073 0.00003
NM_017739.4(POMGNT1):c.421-9C>T rs748122023 0.00003
NM_017739.4(POMGNT1):c.444G>A (p.Val148=) rs142016718 0.00003
NM_017739.4(POMGNT1):c.507C>T (p.Pro169=) rs576860809 0.00003
NM_017739.4(POMGNT1):c.653-4C>T rs771765778 0.00003
NM_017739.4(POMGNT1):c.698C>T (p.Ser233Phe) rs569061665 0.00003
NM_017739.4(POMGNT1):c.1011T>C (p.Ile337=) rs777911698 0.00002
NM_017739.4(POMGNT1):c.1014C>T (p.Asp338=) rs780555791 0.00002
NM_017739.4(POMGNT1):c.1077T>C (p.Thr359=) rs886042244 0.00002
NM_017739.4(POMGNT1):c.121-7C>T rs376662637 0.00002
NM_017739.4(POMGNT1):c.1305G>A (p.Glu435=) rs1272401946 0.00002
NM_017739.4(POMGNT1):c.1414-11A>C rs772014671 0.00002
NM_017739.4(POMGNT1):c.1422T>C (p.Asp474=) rs770989782 0.00002
NM_017739.4(POMGNT1):c.1530C>T (p.Gly510=) rs1465862661 0.00002
NM_017739.4(POMGNT1):c.1533C>T (p.Tyr511=) rs1434020595 0.00002
NM_017739.4(POMGNT1):c.300C>T (p.Asp100=) rs748654101 0.00002
NM_017739.4(POMGNT1):c.421-5G>A rs749131264 0.00002
NM_017739.4(POMGNT1):c.535-5C>T rs975706637 0.00002
NM_017739.4(POMGNT1):c.879+7G>A rs768184440 0.00002
NM_017739.4(POMGNT1):c.900C>T (p.Leu300=) rs778664130 0.00002
NM_017739.4(POMGNT1):c.1005T>A (p.Val335=) rs749046557 0.00001
NM_017739.4(POMGNT1):c.1027-7C>T rs1230573613 0.00001
NM_017739.4(POMGNT1):c.105G>A (p.Leu35=) rs1411611657 0.00001
NM_017739.4(POMGNT1):c.1074T>C (p.His358=) rs1274829970 0.00001
NM_017739.4(POMGNT1):c.1110+20G>C rs370151630 0.00001
NM_017739.4(POMGNT1):c.1110+7C>T rs769481215 0.00001
NM_017739.4(POMGNT1):c.1111-12C>A rs369760788 0.00001
NM_017739.4(POMGNT1):c.1167T>C (p.Ala389=) rs183698543 0.00001
NM_017739.4(POMGNT1):c.120+10T>A rs1658352895 0.00001
NM_017739.4(POMGNT1):c.121-10C>T rs748734868 0.00001
NM_017739.4(POMGNT1):c.1211+8G>C rs766253288 0.00001
NM_017739.4(POMGNT1):c.1212-4T>G rs778941358 0.00001
NM_017739.4(POMGNT1):c.1218G>A (p.Leu406=) rs1211823122 0.00001
NM_017739.4(POMGNT1):c.1236A>G (p.Leu412=) rs780965440 0.00001
NM_017739.4(POMGNT1):c.1248T>C (p.Asp416=) rs756939646 0.00001
NM_017739.4(POMGNT1):c.1269T>G (p.Ser423=) rs763604454 0.00001
NM_017739.4(POMGNT1):c.126G>A (p.Gly42=) rs374480891 0.00001
NM_017739.4(POMGNT1):c.1287G>C (p.Gly429=) rs1263918453 0.00001
NM_017739.4(POMGNT1):c.1365G>A (p.Arg455=) rs774554415 0.00001
NM_017739.4(POMGNT1):c.1377G>A (p.Lys459=) rs768983994 0.00001
NM_017739.4(POMGNT1):c.1380G>A (p.Glu460=) rs1167749728 0.00001
NM_017739.4(POMGNT1):c.1407G>A (p.Pro469=) rs375039269 0.00001
NM_017739.4(POMGNT1):c.1413+12G>T rs1339833158 0.00001
NM_017739.4(POMGNT1):c.1413+7G>A rs372521038 0.00001
NM_017739.4(POMGNT1):c.1414-16G>T rs773143031 0.00001
NM_017739.4(POMGNT1):c.1458G>A (p.Arg486=) rs765493853 0.00001
NM_017739.4(POMGNT1):c.1470C>T (p.Cys490=) rs772100590 0.00001
NM_017739.4(POMGNT1):c.1482C>T (p.Asp494=) rs769213562 0.00001
NM_017739.4(POMGNT1):c.1521C>T (p.Asn507=) rs767617711 0.00001
NM_017739.4(POMGNT1):c.1539+9G>A rs775040861 0.00001
NM_017739.4(POMGNT1):c.1560C>T (p.His520=) rs1057521878 0.00001
NM_017739.4(POMGNT1):c.1572G>A (p.Thr524=) rs201897676 0.00001
NM_017739.4(POMGNT1):c.1596T>C (p.Asn532=) rs200730202 0.00001
NM_017739.4(POMGNT1):c.1605-12C>A rs1255591571 0.00001
NM_017739.4(POMGNT1):c.1605-9C>T rs368345562 0.00001
NM_017739.4(POMGNT1):c.1647C>T (p.Leu549=) rs777907605 0.00001
NM_017739.4(POMGNT1):c.1650-10T>C rs753698616 0.00001
NM_017739.4(POMGNT1):c.168G>A (p.Lys56=) rs539988776 0.00001
NM_017739.4(POMGNT1):c.1707C>T (p.Asp569=) rs1206240703 0.00001
NM_017739.4(POMGNT1):c.1725C>T (p.Tyr575=) rs1657618143 0.00001
NM_017739.4(POMGNT1):c.1773C>T (p.Thr591=) rs755936993 0.00001
NM_017739.4(POMGNT1):c.1786-17C>T rs1209878503 0.00001
NM_017739.4(POMGNT1):c.1786-9C>T rs961913683 0.00001
NM_017739.4(POMGNT1):c.1911C>G (p.Pro637=) rs747815387 0.00001
NM_017739.4(POMGNT1):c.1923A>C (p.Pro641=) rs886043958 0.00001
NM_017739.4(POMGNT1):c.192C>T (p.Ala64=) rs373686838 0.00001
NM_017739.4(POMGNT1):c.1953G>A (p.Glu651=) rs1210887374 0.00001
NM_017739.4(POMGNT1):c.213C>T (p.Asp71=) rs909246508 0.00001
NM_017739.4(POMGNT1):c.255G>A (p.Leu85=) rs754111936 0.00001
NM_017739.4(POMGNT1):c.264A>G (p.Pro88=) rs1557677974 0.00001
NM_017739.4(POMGNT1):c.355-6G>C rs754657039 0.00001
NM_017739.4(POMGNT1):c.399C>T (p.Val133=) rs776851436 0.00001
NM_017739.4(POMGNT1):c.405C>T (p.Val135=) rs777809507 0.00001
NM_017739.4(POMGNT1):c.420+11A>C rs564933024 0.00001
NM_017739.4(POMGNT1):c.420+12G>C rs907290682 0.00001
NM_017739.4(POMGNT1):c.421-20A>G rs1010666552 0.00001
NM_017739.4(POMGNT1):c.421-8C>T rs778935754 0.00001
NM_017739.4(POMGNT1):c.504G>A (p.Ala168=) rs761978964 0.00001
NM_017739.4(POMGNT1):c.534+13G>C rs373313076 0.00001
NM_017739.4(POMGNT1):c.534+16C>T rs780919869 0.00001
NM_017739.4(POMGNT1):c.535-14C>G rs778926136 0.00001
NM_017739.4(POMGNT1):c.579G>A (p.Leu193=) rs747612249 0.00001
NM_017739.4(POMGNT1):c.588G>A (p.Leu196=) rs750844260 0.00001
NM_017739.4(POMGNT1):c.633C>T (p.Ala211=) rs765314886 0.00001
NM_017739.4(POMGNT1):c.653-10C>T rs1658075924 0.00001
NM_017739.4(POMGNT1):c.653-12G>C rs1258635883 0.00001
NM_017739.4(POMGNT1):c.735A>G (p.Pro245=) rs139266745 0.00001
NM_017739.4(POMGNT1):c.752-10C>T rs1470088795 0.00001
NM_017739.4(POMGNT1):c.752-16C>T rs376149012 0.00001
NM_017739.4(POMGNT1):c.807C>T (p.Cys269=) rs1285062976 0.00001
NM_017739.4(POMGNT1):c.825T>C (p.Tyr275=) rs1398706831 0.00001
NM_017739.4(POMGNT1):c.834A>G (p.Val278=) rs1299228802 0.00001
NM_017739.4(POMGNT1):c.861C>T (p.Ile287=) rs764747122 0.00001
NM_017739.4(POMGNT1):c.879+18A>G rs1658029444 0.00001
NM_017739.4(POMGNT1):c.87G>A (p.Leu29=) rs794727291 0.00001
NM_017739.4(POMGNT1):c.880-4A>C rs1553163534 0.00001
NM_017739.4(POMGNT1):c.880-5C>T rs746970517 0.00001
NM_017739.4(POMGNT1):c.902A>G (p.Asn301Ser) rs754653320 0.00001
NM_017739.4(POMGNT1):c.924A>G (p.Ala308=) rs202058059 0.00001
NM_017739.4(POMGNT1):c.951-9G>C rs765581970 0.00001
NM_017739.4(POMGNT1):c.1002A>C (p.Thr334=)
NM_017739.4(POMGNT1):c.1026+11C>T
NM_017739.4(POMGNT1):c.1026+12T>G
NM_017739.4(POMGNT1):c.1026+13_1026+14insC
NM_017739.4(POMGNT1):c.1026+14G>A
NM_017739.4(POMGNT1):c.1026+15G>A
NM_017739.4(POMGNT1):c.1026+16G>A
NM_017739.4(POMGNT1):c.1026+9G>A rs2148194105
NM_017739.4(POMGNT1):c.1026+9G>C rs2148194105
NM_017739.4(POMGNT1):c.1027-11A>G rs1339767677
NM_017739.4(POMGNT1):c.1027-18A>C rs1255998791
NM_017739.4(POMGNT1):c.1027-4C>G rs1325977866
NM_017739.4(POMGNT1):c.1027-4C>T
NM_017739.4(POMGNT1):c.1027-6C>T
NM_017739.4(POMGNT1):c.1027-9dup
NM_017739.4(POMGNT1):c.102C>T (p.Ala34=) rs2148222428
NM_017739.4(POMGNT1):c.1041G>A (p.Val347=) rs1422051418
NM_017739.4(POMGNT1):c.1047A>G (p.Ala349=)
NM_017739.4(POMGNT1):c.1050G>A (p.Leu350=) rs886043076
NM_017739.4(POMGNT1):c.1050G>T (p.Leu350=) rs886043076
NM_017739.4(POMGNT1):c.1059G>A (p.Leu353=)
NM_017739.4(POMGNT1):c.1065C>T (p.Gly355=)
NM_017739.4(POMGNT1):c.1080C>A (p.Pro360=)
NM_017739.4(POMGNT1):c.1080C>T (p.Pro360=)
NM_017739.4(POMGNT1):c.108G>A (p.Arg36=)
NM_017739.4(POMGNT1):c.1095T>C (p.Asn365=)
NM_017739.4(POMGNT1):c.1110+8A>G
NM_017739.4(POMGNT1):c.1111-10C>A rs1277266739
NM_017739.4(POMGNT1):c.1111-11C>T
NM_017739.4(POMGNT1):c.1111-12C>T rs369760788
NM_017739.4(POMGNT1):c.1111-14C>T
NM_017739.4(POMGNT1):c.1111-16C>T
NM_017739.4(POMGNT1):c.1111-4C>G rs1027899021
NM_017739.4(POMGNT1):c.1111-7C>T rs1414733588
NM_017739.4(POMGNT1):c.1111-9C>A rs757533535
NM_017739.4(POMGNT1):c.1119G>A (p.Lys373=) rs2148191353
NM_017739.4(POMGNT1):c.1122C>A (p.Ala374=)
NM_017739.4(POMGNT1):c.1128C>T (p.Leu376=) rs2148191342
NM_017739.4(POMGNT1):c.1137T>C (p.Thr379=) rs2148191281
NM_017739.4(POMGNT1):c.1143C>T (p.Asn381=) rs1657925003
NM_017739.4(POMGNT1):c.114C>T (p.Phe38=) rs574593030
NM_017739.4(POMGNT1):c.1152+10A>T rs2148191095
NM_017739.4(POMGNT1):c.1152+12G>C
NM_017739.4(POMGNT1):c.1152+13G>T
NM_017739.4(POMGNT1):c.1152+14_1152+27del
NM_017739.4(POMGNT1):c.1153-10C>T
NM_017739.4(POMGNT1):c.1153-13A>G
NM_017739.4(POMGNT1):c.1153-13_1153-8del rs2148189751
NM_017739.4(POMGNT1):c.1153-18G>A
NM_017739.4(POMGNT1):c.1153-19T>C
NM_017739.4(POMGNT1):c.1153-20A>G
NM_017739.4(POMGNT1):c.1153-20A>T
NM_017739.4(POMGNT1):c.1153-4C>T
NM_017739.4(POMGNT1):c.1153-5T>G
NM_017739.4(POMGNT1):c.1153-7C>T rs2148189712
NM_017739.4(POMGNT1):c.1153-8C>G rs1557672738
NM_017739.4(POMGNT1):c.1176G>A (p.Leu392=)
NM_017739.4(POMGNT1):c.1186C>T (p.Leu396=)
NM_017739.4(POMGNT1):c.1188G>A (p.Leu396=) rs1657896660
NM_017739.4(POMGNT1):c.1188G>C (p.Leu396=)
NM_017739.4(POMGNT1):c.1191C>T (p.Asp397=)
NM_017739.4(POMGNT1):c.120+10T>C rs1658352895
NM_017739.4(POMGNT1):c.120+16A>G
NM_017739.4(POMGNT1):c.120+19C>T
NM_017739.4(POMGNT1):c.120+8G>A
NM_017739.4(POMGNT1):c.1203T>C (p.Asp401=) rs1437757660
NM_017739.4(POMGNT1):c.121-10C>G
NM_017739.4(POMGNT1):c.121-11C>T
NM_017739.4(POMGNT1):c.121-12C>A rs754484485
NM_017739.4(POMGNT1):c.121-13C>A
NM_017739.4(POMGNT1):c.121-13C>T
NM_017739.4(POMGNT1):c.121-15T>C
NM_017739.4(POMGNT1):c.121-17C>A
NM_017739.4(POMGNT1):c.121-6C>A rs558052679
NM_017739.4(POMGNT1):c.121-6C>T rs558052679
NM_017739.4(POMGNT1):c.1211+14C>T
NM_017739.4(POMGNT1):c.1211+17G>C
NM_017739.4(POMGNT1):c.1212-11G>C
NM_017739.4(POMGNT1):c.1212-14C>A
NM_017739.4(POMGNT1):c.1212-15C>T
NM_017739.4(POMGNT1):c.1212-16A>G
NM_017739.4(POMGNT1):c.1212-5C>T rs2148187757
NM_017739.4(POMGNT1):c.1212-8T>C
NM_017739.4(POMGNT1):c.1215C>T (p.Phe405=) rs1280101536
NM_017739.4(POMGNT1):c.1218G>C (p.Leu406=) rs1211823122
NM_017739.4(POMGNT1):c.1227C>T (p.Ser409=)
NM_017739.4(POMGNT1):c.1230C>T (p.Ile410=) rs756026992
NM_017739.4(POMGNT1):c.1233C>T (p.His411=)
NM_017739.4(POMGNT1):c.1236A>C (p.Leu412=) rs780965440
NM_017739.4(POMGNT1):c.1239G>T (p.Leu413=) rs2148187443
NM_017739.4(POMGNT1):c.1255C>T (p.Leu419=)
NM_017739.4(POMGNT1):c.1269T>C (p.Ser423=) rs763604454
NM_017739.4(POMGNT1):c.1272C>T (p.Ala424=)
NM_017739.4(POMGNT1):c.1281C>T (p.Asp427=) rs2148187177
NM_017739.4(POMGNT1):c.1284+11A>G
NM_017739.4(POMGNT1):c.1284+15C>T
NM_017739.4(POMGNT1):c.1284+18G>C
NM_017739.4(POMGNT1):c.1284+19G>C
NM_017739.4(POMGNT1):c.1284+20G>A
NM_017739.4(POMGNT1):c.1285-10C>G rs2148186332
NM_017739.4(POMGNT1):c.1285-13_1285-12del
NM_017739.4(POMGNT1):c.1285-14C>G rs2148186436
NM_017739.4(POMGNT1):c.1285-17T>C rs1205438093
NM_017739.4(POMGNT1):c.1285-18A>G rs201073664
NM_017739.4(POMGNT1):c.1285-5C>T
NM_017739.4(POMGNT1):c.1287G>A (p.Gly429=) rs1263918453
NM_017739.4(POMGNT1):c.1290T>C (p.Tyr430=)
NM_017739.4(POMGNT1):c.1296C>T (p.His432=)
NM_017739.4(POMGNT1):c.129C>G (p.Ala43=)
NM_017739.4(POMGNT1):c.1314A>G (p.Ala438=) rs2148185956
NM_017739.4(POMGNT1):c.1320G>A (p.Leu440=) rs1419629661
NM_017739.4(POMGNT1):c.1320G>C (p.Leu440=)
NM_017739.4(POMGNT1):c.132G>A (p.Val44=) rs1658306175
NM_017739.4(POMGNT1):c.1332G>A (p.Glu444=)
NM_017739.4(POMGNT1):c.1341T>C (p.Pro447=) rs764844715
NM_017739.4(POMGNT1):c.1344G>A (p.Gly448=) rs183932527
NM_017739.4(POMGNT1):c.1344G>T (p.Gly448=) rs183932527
NM_017739.4(POMGNT1):c.1345C>T (p.Leu449=)
NM_017739.4(POMGNT1):c.1347G>A (p.Leu449=)
NM_017739.4(POMGNT1):c.1350C>T (p.Gly450=)
NM_017739.4(POMGNT1):c.1363A>C (p.Arg455=)
NM_017739.4(POMGNT1):c.1371G>A (p.Leu457=)
NM_017739.4(POMGNT1):c.1374C>T (p.Tyr458=)
NM_017739.4(POMGNT1):c.1404A>G (p.Thr468=) rs1469098458
NM_017739.4(POMGNT1):c.1413+14T>C
NM_017739.4(POMGNT1):c.1413+15A>C
NM_017739.4(POMGNT1):c.1413+17G>A
NM_017739.4(POMGNT1):c.1413+17G>T
NM_017739.4(POMGNT1):c.1413+18G>A
NM_017739.4(POMGNT1):c.1413+7G>C rs372521038
NM_017739.4(POMGNT1):c.1414-18G>A rs746924004
NM_017739.4(POMGNT1):c.1414-18G>T
NM_017739.4(POMGNT1):c.1414-19C>T rs978565899
NM_017739.4(POMGNT1):c.1414-4C>T rs1657831294
NM_017739.4(POMGNT1):c.1414-5G>C rs778744226
NM_017739.4(POMGNT1):c.1414-7C>T rs2148184559
NM_017739.4(POMGNT1):c.1414-9G>A
NM_017739.4(POMGNT1):c.1416C>T (p.Leu472=) rs2148184489
NM_017739.4(POMGNT1):c.141G>T (p.Leu47=) rs2148219389
NM_017739.4(POMGNT1):c.1461C>T (p.Gly487=) rs2148184086
NM_017739.4(POMGNT1):c.1464A>G (p.Arg488=) rs1157887321
NM_017739.4(POMGNT1):c.1489C>A (p.Arg497=)
NM_017739.4(POMGNT1):c.1494C>G (p.Ser498=) rs2148183687
NM_017739.4(POMGNT1):c.1503T>C (p.Phe501=) rs779251990
NM_017739.4(POMGNT1):c.1509C>T (p.Ile503=) rs370215834
NM_017739.4(POMGNT1):c.150T>G (p.Thr50=) rs2148219359
NM_017739.4(POMGNT1):c.1512C>T (p.Val504=)
NM_017739.4(POMGNT1):c.1515C>T (p.Gly505=)
NM_017739.4(POMGNT1):c.1539+11G>A
NM_017739.4(POMGNT1):c.1539+11G>T
NM_017739.4(POMGNT1):c.1539+12G>T
NM_017739.4(POMGNT1):c.1539+15G>A
NM_017739.4(POMGNT1):c.1539+17del
NM_017739.4(POMGNT1):c.1539+18A>T
NM_017739.4(POMGNT1):c.1539+19G>A
NM_017739.4(POMGNT1):c.1539+19G>T
NM_017739.4(POMGNT1):c.1539+20C>G rs1298417014
NM_017739.4(POMGNT1):c.1539+20C>T
NM_017739.4(POMGNT1):c.1539+7G>A
NM_017739.4(POMGNT1):c.1540-12T>C
NM_017739.4(POMGNT1):c.1540-19A>G
NM_017739.4(POMGNT1):c.1540-4C>T rs2148175006
NM_017739.4(POMGNT1):c.1540-5T>C
NM_017739.4(POMGNT1):c.1540-8C>T rs2148175078
NM_017739.4(POMGNT1):c.156T>C (p.Ile52=) rs2148219292
NM_017739.4(POMGNT1):c.1599G>A (p.Val533=) rs2148174488
NM_017739.4(POMGNT1):c.159C>T (p.Val53=)
NM_017739.4(POMGNT1):c.1604+17G>T rs2148174265
NM_017739.4(POMGNT1):c.1604+18G>C rs2148174248
NM_017739.4(POMGNT1):c.1604+20C>A
NM_017739.4(POMGNT1):c.1604+8C>A rs2148174404
NM_017739.4(POMGNT1):c.1604+9T>G
NM_017739.4(POMGNT1):c.1605-11C>T
NM_017739.4(POMGNT1):c.1605-19A>G
NM_017739.4(POMGNT1):c.1605-20C>T
NM_017739.4(POMGNT1):c.1605-6C>T rs2148172583
NM_017739.4(POMGNT1):c.1605-6_1605-5del
NM_017739.4(POMGNT1):c.1605-8_1605-6del rs2148172606
NM_017739.4(POMGNT1):c.1608G>C (p.Leu536=)
NM_017739.4(POMGNT1):c.1629G>A (p.Val543=) rs2148172303
NM_017739.4(POMGNT1):c.1632A>G (p.Glu544=)
NM_017739.4(POMGNT1):c.1638C>T (p.His546=)
NM_017739.4(POMGNT1):c.1649+10A>G
NM_017739.4(POMGNT1):c.1649+13A>G
NM_017739.4(POMGNT1):c.1649+16A>G rs1283340700
NM_017739.4(POMGNT1):c.1649+17T>C
NM_017739.4(POMGNT1):c.1649+18T>C
NM_017739.4(POMGNT1):c.1649+20G>A
NM_017739.4(POMGNT1):c.1650-13C>T rs1413241496
NM_017739.4(POMGNT1):c.1650-4G>A rs1557669478
NM_017739.4(POMGNT1):c.1650-5_1650-3dup rs2148167846
NM_017739.4(POMGNT1):c.1650-7A>G
NM_017739.4(POMGNT1):c.1659G>A (p.Glu553=) rs750115605
NM_017739.4(POMGNT1):c.165C>T (p.Ile55=)
NM_017739.4(POMGNT1):c.1662T>C (p.Val554=)
NM_017739.4(POMGNT1):c.1663C>T (p.Leu555=)
NM_017739.4(POMGNT1):c.1665G>A (p.Leu555=)
NM_017739.4(POMGNT1):c.1671C>T (p.His557=) rs2148167689
NM_017739.4(POMGNT1):c.1680C>T (p.Asn560=) rs1571647920
NM_017739.4(POMGNT1):c.1683T>C (p.Pro561=) rs1246120938
NM_017739.4(POMGNT1):c.1704A>G (p.Pro568=)
NM_017739.4(POMGNT1):c.1716C>T (p.Gly572=) rs2148167217
NM_017739.4(POMGNT1):c.1719C>T (p.His573=) rs2148167171
NM_017739.4(POMGNT1):c.1722C>G (p.Thr574=)
NM_017739.4(POMGNT1):c.1728G>A (p.Val576=)
NM_017739.4(POMGNT1):c.1731C>G (p.Ala577=) rs2148166958
NM_017739.4(POMGNT1):c.1731C>T (p.Ala577=)
NM_017739.4(POMGNT1):c.1746G>A (p.Glu582=) rs2148166820
NM_017739.4(POMGNT1):c.1749A>G (p.Lys583=)
NM_017739.4(POMGNT1):c.174C>T (p.Ile58=) rs1262461613
NM_017739.4(POMGNT1):c.1755T>C (p.Asp585=)
NM_017739.4(POMGNT1):c.175C>T (p.Leu59=)
NM_017739.4(POMGNT1):c.1767C>T (p.Thr589=)
NM_017739.4(POMGNT1):c.1773C>G (p.Thr591=) rs755936993
NM_017739.4(POMGNT1):c.1785+10T>C rs2148166357
NM_017739.4(POMGNT1):c.1785+19C>A
NM_017739.4(POMGNT1):c.1785+19C>T
NM_017739.4(POMGNT1):c.1785+20A>G
NM_017739.4(POMGNT1):c.1786-10C>T
NM_017739.4(POMGNT1):c.1786-11A>G
NM_017739.4(POMGNT1):c.1786-12C>A
NM_017739.4(POMGNT1):c.1786-14C>G
NM_017739.4(POMGNT1):c.1786-16A>G
NM_017739.4(POMGNT1):c.1786-18C>G
NM_017739.4(POMGNT1):c.1786-4C>T
NM_017739.4(POMGNT1):c.1786-8C>G
NM_017739.4(POMGNT1):c.1788C>T (p.Cys596=) rs376973640
NM_017739.4(POMGNT1):c.1804C>T (p.Leu602=)
NM_017739.4(POMGNT1):c.1806G>A (p.Leu602=)
NM_017739.4(POMGNT1):c.1809T>C (p.Asp603=) rs372423310
NM_017739.4(POMGNT1):c.180C>T (p.Asp60=) rs2148219090
NM_017739.4(POMGNT1):c.1812G>A (p.Val604=)
NM_017739.4(POMGNT1):c.1839A>G (p.Arg613=) rs1657576580
NM_017739.4(POMGNT1):c.183T>C (p.Thr61=) rs748826601
NM_017739.4(POMGNT1):c.1842G>A (p.Leu614=) rs1298358291
NM_017739.4(POMGNT1):c.1863C>T (p.Phe621=) rs2148163363
NM_017739.4(POMGNT1):c.1872G>C (p.Val624=) rs1168602477
NM_017739.4(POMGNT1):c.1878C>T (p.Val626=) rs1657570765
NM_017739.4(POMGNT1):c.1887C>G (p.Ser629=)
NM_017739.4(POMGNT1):c.1889C>G (p.Pro630Arg) rs747723242
NM_017739.4(POMGNT1):c.1890C>T (p.Pro630=)
NM_017739.4(POMGNT1):c.1895+11C>T
NM_017739.4(POMGNT1):c.1895+19C>T
NM_017739.4(POMGNT1):c.1895+9C>G rs754452122
NM_017739.4(POMGNT1):c.1895+9C>T
NM_017739.4(POMGNT1):c.1896-10A>C rs773132049
NM_017739.4(POMGNT1):c.1896-10A>G rs773132049
NM_017739.4(POMGNT1):c.1896-11T>A
NM_017739.4(POMGNT1):c.1896-13A>C
NM_017739.4(POMGNT1):c.1896-18C>G rs1571645725
NM_017739.4(POMGNT1):c.1896-18C>T
NM_017739.4(POMGNT1):c.1896-4C>T rs2148162311
NM_017739.4(POMGNT1):c.1896-5C>T
NM_017739.4(POMGNT1):c.18C>T (p.Pro6=) rs1411103437
NM_017739.4(POMGNT1):c.1914A>C (p.Ser638=) rs778579837
NM_017739.4(POMGNT1):c.1914A>T (p.Ser638=) rs778579837
NM_017739.4(POMGNT1):c.1917C>T (p.Val639=)
NM_017739.4(POMGNT1):c.1923A>G (p.Pro641=) rs886043958
NM_017739.4(POMGNT1):c.1926T>A (p.Ile642=)
NM_017739.4(POMGNT1):c.1929C>T (p.Phe643=) rs2148161920
NM_017739.4(POMGNT1):c.1930C>T (p.Leu644=) rs2148161905
NM_017739.4(POMGNT1):c.1932G>A (p.Leu644=)
NM_017739.4(POMGNT1):c.1935G>A (p.Glu645=) rs2148161838
NM_017739.4(POMGNT1):c.1950G>A (p.Glu650=) rs2148161681
NM_017739.4(POMGNT1):c.1956A>G (p.Gly652=) rs2148161602
NM_017739.4(POMGNT1):c.1959C>T (p.Ala653=) rs2148161592
NM_017739.4(POMGNT1):c.1977G>A (p.Gln659=)
NM_017739.4(POMGNT1):c.1980A>C (p.Thr660=) rs1457135444
NM_017739.4(POMGNT1):c.198T>C (p.Ser66=) rs2148218905
NM_017739.4(POMGNT1):c.201A>G (p.Glu67=)
NM_017739.4(POMGNT1):c.225G>A (p.Glu75=) rs2148218728
NM_017739.4(POMGNT1):c.235+11G>A rs2148218572
NM_017739.4(POMGNT1):c.235+18A>T
NM_017739.4(POMGNT1):c.235+20G>A rs2148218480
NM_017739.4(POMGNT1):c.236-15T>C
NM_017739.4(POMGNT1):c.236-15_236-7del rs769193448
NM_017739.4(POMGNT1):c.236-16C>T
NM_017739.4(POMGNT1):c.236-17C>A
NM_017739.4(POMGNT1):c.236-17C>T
NM_017739.4(POMGNT1):c.236-19G>A
NM_017739.4(POMGNT1):c.236-5C>A
NM_017739.4(POMGNT1):c.236-6C>T rs2148217861
NM_017739.4(POMGNT1):c.236-8C>T
NM_017739.4(POMGNT1):c.243C>G (p.Ala81=) rs200570654
NM_017739.4(POMGNT1):c.252C>T (p.Arg84=)
NM_017739.4(POMGNT1):c.258G>A (p.Glu86=) rs2148217653
NM_017739.4(POMGNT1):c.261C>G (p.Pro87=)
NM_017739.4(POMGNT1):c.261C>T (p.Pro87=) rs1658279896
NM_017739.4(POMGNT1):c.270C>A (p.Arg90=)
NM_017739.4(POMGNT1):c.285C>T (p.Pro95=) rs2148217334
NM_017739.4(POMGNT1):c.289C>A (p.Arg97=) rs564076183
NM_017739.4(POMGNT1):c.309G>A (p.Val103=) rs1553164091
NM_017739.4(POMGNT1):c.324C>T (p.Ser108=)
NM_017739.4(POMGNT1):c.333T>C (p.Tyr111=)
NM_017739.4(POMGNT1):c.33G>A (p.Lys11=)
NM_017739.4(POMGNT1):c.354+14G>T
NM_017739.4(POMGNT1):c.354+15G>A
NM_017739.4(POMGNT1):c.354+15G>C
NM_017739.4(POMGNT1):c.354+15G>T
NM_017739.4(POMGNT1):c.354+8G>A
NM_017739.4(POMGNT1):c.355-15T>C
NM_017739.4(POMGNT1):c.355-16C>G rs1571667841
NM_017739.4(POMGNT1):c.355-17T>C
NM_017739.4(POMGNT1):c.355-18G>C rs752485539
NM_017739.4(POMGNT1):c.355-4_355-3del rs2148213665
NM_017739.4(POMGNT1):c.355-5T>C
NM_017739.4(POMGNT1):c.355-6G>A
NM_017739.4(POMGNT1):c.355-6G>T
NM_017739.4(POMGNT1):c.355-9A>C rs886042396
NM_017739.4(POMGNT1):c.355-9A>G rs886042396
NM_017739.4(POMGNT1):c.355-9A>T rs886042396
NM_017739.4(POMGNT1):c.357G>A (p.Val119=)
NM_017739.4(POMGNT1):c.360G>A (p.Leu120=) rs2148213580
NM_017739.4(POMGNT1):c.36C>T (p.Pro12=)
NM_017739.4(POMGNT1):c.378G>A (p.Glu126=)
NM_017739.4(POMGNT1):c.387G>A (p.Arg129=)
NM_017739.4(POMGNT1):c.396T>C (p.His132=) rs886043409
NM_017739.4(POMGNT1):c.399C>G (p.Val133=) rs776851436
NM_017739.4(POMGNT1):c.39T>C (p.Phe13=) rs2148222786
NM_017739.4(POMGNT1):c.402T>A (p.Ile134=)
NM_017739.4(POMGNT1):c.408C>T (p.Leu136=)
NM_017739.4(POMGNT1):c.420+15G>C
NM_017739.4(POMGNT1):c.420+16T>C
NM_017739.4(POMGNT1):c.420+17G>A
NM_017739.4(POMGNT1):c.420+17G>T
NM_017739.4(POMGNT1):c.420+18G>T
NM_017739.4(POMGNT1):c.420+19G>A
NM_017739.4(POMGNT1):c.420+19G>T
NM_017739.4(POMGNT1):c.420+8T>G
NM_017739.4(POMGNT1):c.421-12A>G
NM_017739.4(POMGNT1):c.421-14A>G
NM_017739.4(POMGNT1):c.421-20A>C
NM_017739.4(POMGNT1):c.421-4C>T rs2148212442
NM_017739.4(POMGNT1):c.421-7C>G
NM_017739.4(POMGNT1):c.421-8_421-7del
NM_017739.4(POMGNT1):c.429G>A (p.Val143=)
NM_017739.4(POMGNT1):c.438A>G (p.Lys146=) rs1360246041
NM_017739.4(POMGNT1):c.453G>T (p.Thr151=)
NM_017739.4(POMGNT1):c.459A>G (p.Ser153=)
NM_017739.4(POMGNT1):c.45T>C (p.Ala15=) rs2148222755
NM_017739.4(POMGNT1):c.489C>T (p.Phe163=) rs1379184772
NM_017739.4(POMGNT1):c.492C>G (p.Leu164=) rs562534688
NM_017739.4(POMGNT1):c.495C>T (p.Asn165=) rs2148211758
NM_017739.4(POMGNT1):c.504G>T (p.Ala168=) rs761978964
NM_017739.4(POMGNT1):c.507C>G (p.Pro169=)
NM_017739.4(POMGNT1):c.519C>T (p.Leu173=) rs749222507
NM_017739.4(POMGNT1):c.522C>A (p.Ile174=)
NM_017739.4(POMGNT1):c.522C>T (p.Ile174=) rs949200631
NM_017739.4(POMGNT1):c.525C>T (p.Cys175=)
NM_017739.4(POMGNT1):c.528T>C (p.Thr176=) rs1217058255
NM_017739.4(POMGNT1):c.534+17T>C
NM_017739.4(POMGNT1):c.535-10G>T rs775581321
NM_017739.4(POMGNT1):c.535-17C>T
NM_017739.4(POMGNT1):c.535-20T>A
NM_017739.4(POMGNT1):c.535-4C>G rs1433628796
NM_017739.4(POMGNT1):c.535-4C>T
NM_017739.4(POMGNT1):c.535-7C>G rs375913574
NM_017739.4(POMGNT1):c.535-7C>T rs375913574
NM_017739.4(POMGNT1):c.535-9G>A
NM_017739.4(POMGNT1):c.540G>A (p.Glu180=) rs1571664531
NM_017739.4(POMGNT1):c.546C>T (p.Ser182=)
NM_017739.4(POMGNT1):c.54G>A (p.Lys18=) rs1364921620
NM_017739.4(POMGNT1):c.55C>A (p.Arg19=) rs757941122
NM_017739.4(POMGNT1):c.570G>A (p.Lys190=)
NM_017739.4(POMGNT1):c.582G>A (p.Arg194=) rs398124309
NM_017739.4(POMGNT1):c.585C>T (p.Ser195=) rs756578769
NM_017739.4(POMGNT1):c.588G>C (p.Leu196=)
NM_017739.4(POMGNT1):c.588G>T (p.Leu196=)
NM_017739.4(POMGNT1):c.600T>A (p.Ala200=) rs2148205182
NM_017739.4(POMGNT1):c.615C>T (p.Gly205=)
NM_017739.4(POMGNT1):c.621G>A (p.Arg207=)
NM_017739.4(POMGNT1):c.624C>T (p.Asp208=) rs1553163762
NM_017739.4(POMGNT1):c.643C>A (p.Arg215=)
NM_017739.4(POMGNT1):c.652+11C>T
NM_017739.4(POMGNT1):c.652+12A>G rs1658093902
NM_017739.4(POMGNT1):c.652+18C>T
NM_017739.4(POMGNT1):c.652+18dup
NM_017739.4(POMGNT1):c.652+7G>T rs2148204470
NM_017739.4(POMGNT1):c.652+8C>A
NM_017739.4(POMGNT1):c.652+9A>T
NM_017739.4(POMGNT1):c.653-15C>T rs2148203041
NM_017739.4(POMGNT1):c.653-20T>A
NM_017739.4(POMGNT1):c.653-5G>A
NM_017739.4(POMGNT1):c.653-7C>T
NM_017739.4(POMGNT1):c.657T>C (p.Pro219=)
NM_017739.4(POMGNT1):c.660C>T (p.Val220=) rs2148202862
NM_017739.4(POMGNT1):c.663C>T (p.Phe221=) rs773920830
NM_017739.4(POMGNT1):c.672A>G (p.Lys224=) rs2148202699
NM_017739.4(POMGNT1):c.693C>A (p.Leu231=) rs1341096609
NM_017739.4(POMGNT1):c.693C>T (p.Leu231=) rs1341096609
NM_017739.4(POMGNT1):c.6C>T (p.Asp2=) rs375238770
NM_017739.4(POMGNT1):c.711A>T (p.Pro237=)
NM_017739.4(POMGNT1):c.714C>A (p.Val238=) rs753911656
NM_017739.4(POMGNT1):c.714C>T (p.Val238=)
NM_017739.4(POMGNT1):c.717G>A (p.Leu239=)
NM_017739.4(POMGNT1):c.72C>T (p.Thr24=)
NM_017739.4(POMGNT1):c.747A>C (p.Ala249=) rs774008151
NM_017739.4(POMGNT1):c.751+11_751+13dup
NM_017739.4(POMGNT1):c.751+17A>T
NM_017739.4(POMGNT1):c.751+18T>C
NM_017739.4(POMGNT1):c.751+8T>C rs1553163692
NM_017739.4(POMGNT1):c.751+9A>G rs1658063475
NM_017739.4(POMGNT1):c.751+9A>T
NM_017739.4(POMGNT1):c.752-11C>A rs2148200827
NM_017739.4(POMGNT1):c.752-17C>T
NM_017739.4(POMGNT1):c.752-18A>C
NM_017739.4(POMGNT1):c.752-18A>G
NM_017739.4(POMGNT1):c.752-19_752-18del rs2148200928
NM_017739.4(POMGNT1):c.756A>G (p.Ala252=) rs1658047083
NM_017739.4(POMGNT1):c.771A>G (p.Ala257=)
NM_017739.4(POMGNT1):c.781C>T (p.Leu261=) rs2148200441
NM_017739.4(POMGNT1):c.796C>A (p.Arg266=)
NM_017739.4(POMGNT1):c.804C>T (p.Phe268=) rs745902096
NM_017739.4(POMGNT1):c.81T>C (p.Tyr27=)
NM_017739.4(POMGNT1):c.831T>C (p.Ser277=) rs2148199823
NM_017739.4(POMGNT1):c.834A>T (p.Val278=) rs1299228802
NM_017739.4(POMGNT1):c.855A>G (p.Thr285=) rs2148199636
NM_017739.4(POMGNT1):c.873T>C (p.Pro291=)
NM_017739.4(POMGNT1):c.876C>T (p.Asp292=) rs1658032176
NM_017739.4(POMGNT1):c.879+19C>T
NM_017739.4(POMGNT1):c.879+9G>T rs1413491009
NM_017739.4(POMGNT1):c.880-13A>C
NM_017739.4(POMGNT1):c.880-13A>G
NM_017739.4(POMGNT1):c.880-16G>A rs1658001956
NM_017739.4(POMGNT1):c.880-17C>T
NM_017739.4(POMGNT1):c.880-6C>T rs1557674387
NM_017739.4(POMGNT1):c.880-7C>T
NM_017739.4(POMGNT1):c.880-9C>T rs994516915
NM_017739.4(POMGNT1):c.882C>G (p.Leu294=) rs374590423
NM_017739.4(POMGNT1):c.882C>T (p.Leu294=)
NM_017739.4(POMGNT1):c.888C>T (p.Asp296=) rs369970994
NM_017739.4(POMGNT1):c.915T>C (p.Ala305=)
NM_017739.4(POMGNT1):c.936C>T (p.Pro312=)
NM_017739.4(POMGNT1):c.948C>T (p.Tyr316=)
NM_017739.4(POMGNT1):c.950+15G>A
NM_017739.4(POMGNT1):c.950+17G>A
NM_017739.4(POMGNT1):c.950+17G>C
NM_017739.4(POMGNT1):c.950+17G>T
NM_017739.4(POMGNT1):c.950+19T>C
NM_017739.4(POMGNT1):c.951-15C>T
NM_017739.4(POMGNT1):c.951-16T>C
NM_017739.4(POMGNT1):c.951-19C>G
NM_017739.4(POMGNT1):c.951-20C>T
NM_017739.4(POMGNT1):c.951-4C>T rs2148194982
NM_017739.4(POMGNT1):c.951-5C>T
NM_017739.4(POMGNT1):c.951-6C>T
NM_017739.4(POMGNT1):c.951-8C>G
NM_017739.4(POMGNT1):c.951-9G>T
NM_017739.4(POMGNT1):c.960C>T (p.Arg320=) rs146933218
NM_017739.4(POMGNT1):c.96G>A (p.Gln32=)
NM_017739.4(POMGNT1):c.981G>A (p.Gly327=)
NM_017739.4(POMGNT1):c.981G>C (p.Gly327=) rs1281332311
NM_017739.4(POMGNT1):c.99G>A (p.Arg33=)

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