ClinVar Miner

List of variants in gene combination POMGNT1, TSPAN1 reported as likely benign for muscular dystrophy-dystroglycanopathy, type C

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 512
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017739.4(POMGNT1):c.1257G>A (p.Leu419=) rs41292143 0.01062
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973 0.00994
NM_017739.4(POMGNT1):c.1298C>T (p.Thr433Met) rs146097254 0.00280
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.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.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.1111-6T>C rs751751349 0.00006
NM_017739.4(POMGNT1):c.1896-20T>A rs200416465 0.00006
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.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.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.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.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.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.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.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.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.1953G>A (p.Glu651=) rs1210887374 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.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.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.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.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.1203T>C (p.Asp401=) rs1437757660
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.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.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.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.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.1599G>A (p.Val533=) rs2148174488
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.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.1755T>C (p.Asp585=)
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.1812G>A (p.Val604=)
NM_017739.4(POMGNT1):c.1839A>G (p.Arg613=) rs1657576580
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.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.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.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.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.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.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.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.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.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.981G>A (p.Gly327=)
NM_017739.4(POMGNT1):c.981G>C (p.Gly327=) rs1281332311

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.