ClinVar Miner

List of variants in gene combination POMGNT1, TSPAN1 reported as uncertain significance for congenital muscular dystrophy

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 344
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973 0.00994
NM_017739.4(POMGNT1):c.*221G>A rs181362801 0.00374
NM_017739.4(POMGNT1):c.*451C>T rs148903585 0.00364
NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile) rs17102066 0.00264
NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn) rs142485035 0.00119
NM_017739.4(POMGNT1):c.*34G>A rs200540049 0.00076
NM_017739.4(POMGNT1):c.421-7C>A rs189274856 0.00049
NM_017739.4(POMGNT1):c.1539+1G>A rs138642840 0.00034
NM_017739.4(POMGNT1):c.486A>G (p.Leu162=) rs138330966 0.00034
NM_017739.4(POMGNT1):c.1454G>A (p.Arg485His) rs544816408 0.00015
NM_017739.4(POMGNT1):c.420G>A (p.Thr140=) rs146237009 0.00014
NM_017739.4(POMGNT1):c.960C>G (p.Arg320=) rs146933218 0.00012
NM_017739.4(POMGNT1):c.1979C>T (p.Thr660Ile) rs377760450 0.00011
NM_017739.4(POMGNT1):c.652+6G>A rs369289384 0.00011
NM_017739.4(POMGNT1):c.752-15G>A rs368317059 0.00011
NM_017739.4(POMGNT1):c.355G>A (p.Val119Met) rs148498470 0.00010
NM_017739.4(POMGNT1):c.1285-6C>T rs377292905 0.00009
NM_017739.4(POMGNT1):c.1825C>T (p.Arg609Trp) rs145736350 0.00009
NM_017739.4(POMGNT1):c.958C>T (p.Arg320Cys) rs373777515 0.00009
NM_017739.4(POMGNT1):c.1539C>T (p.His513=) rs569297597 0.00006
NM_017739.4(POMGNT1):c.1826G>A (p.Arg609Gln) rs371741722 0.00006
NM_017739.4(POMGNT1):c.986C>T (p.Ser329Phe) rs772102300 0.00006
NM_017739.4(POMGNT1):c.1099C>T (p.Arg367Cys) rs36038536 0.00005
NM_017739.4(POMGNT1):c.1540-6C>T rs770449394 0.00005
NM_017739.4(POMGNT1):c.550C>T (p.His184Tyr) rs746638187 0.00005
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His) rs386834010 0.00004
NM_017739.4(POMGNT1):c.1101C>T (p.Arg367=) rs775495503 0.00004
NM_017739.4(POMGNT1):c.1195G>A (p.Ala399Thr) rs1276215978 0.00004
NM_017739.4(POMGNT1):c.1568A>G (p.Asn523Ser) rs372610527 0.00004
NM_017739.4(POMGNT1):c.1571C>T (p.Thr524Met) rs769180238 0.00004
NM_017739.4(POMGNT1):c.1855A>T (p.Asn619Tyr) rs374401585 0.00004
NM_017739.4(POMGNT1):c.1927T>G (p.Phe643Val) rs199534074 0.00004
NM_017739.4(POMGNT1):c.492C>T (p.Leu164=) rs562534688 0.00004
NM_017739.4(POMGNT1):c.772G>A (p.Asp258Asn) rs143736961 0.00004
NM_017739.4(POMGNT1):c.*531C>T rs769094628 0.00003
NM_017739.4(POMGNT1):c.1030C>T (p.Pro344Ser) rs755454684 0.00003
NM_017739.4(POMGNT1):c.1230C>G (p.Ile410Met) rs756026992 0.00003
NM_017739.4(POMGNT1):c.1453C>T (p.Arg485Cys) rs755588045 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.1783A>G (p.Lys595Glu) rs797045896 0.00003
NM_017739.4(POMGNT1):c.1933G>C (p.Glu645Gln) rs778115320 0.00003
NM_017739.4(POMGNT1):c.440G>A (p.Arg147His) rs776165339 0.00003
NM_017739.4(POMGNT1):c.565G>T (p.Ala189Ser) rs949714416 0.00003
NM_017739.4(POMGNT1):c.652+8C>T rs778376741 0.00003
NM_017739.4(POMGNT1):c.698C>T (p.Ser233Phe) rs569061665 0.00003
NM_017739.4(POMGNT1):c.788G>A (p.Arg263His) rs146078296 0.00003
NM_017739.4(POMGNT1):c.888C>A (p.Asp296Glu) rs369970994 0.00003
NM_017739.4(POMGNT1):c.*500G>A rs764840485 0.00002
NM_017739.4(POMGNT1):c.1027-5C>G rs779435288 0.00002
NM_017739.4(POMGNT1):c.1142A>G (p.Asn381Ser) rs140846775 0.00002
NM_017739.4(POMGNT1):c.1457G>A (p.Arg486Gln) rs753030030 0.00002
NM_017739.4(POMGNT1):c.1463G>A (p.Arg488Gln) rs766382416 0.00002
NM_017739.4(POMGNT1):c.1649+1G>A rs752700398 0.00002
NM_017739.4(POMGNT1):c.427G>A (p.Val143Met) rs755885722 0.00002
NM_017739.4(POMGNT1):c.584G>A (p.Ser195Asn) rs917194053 0.00002
NM_017739.4(POMGNT1):c.614G>A (p.Gly205Asp) rs1188660252 0.00002
NM_017739.4(POMGNT1):c.644G>A (p.Arg215Gln) rs770634205 0.00002
NM_017739.4(POMGNT1):c.753G>T (p.Glu251Asp) rs751316371 0.00002
NM_017739.4(POMGNT1):c.800G>A (p.Arg267His) rs756234628 0.00002
NM_017739.4(POMGNT1):c.860T>G (p.Ile287Ser) rs200863680 0.00002
NM_017739.4(POMGNT1):c.879+3G>A rs1411537744 0.00002
NM_017739.4(POMGNT1):c.879A>C (p.Pro293=) rs776248221 0.00002
NM_017739.4(POMGNT1):c.910G>A (p.Val304Met) rs765980130 0.00002
NM_017739.4(POMGNT1):c.*30_*33del rs1553162554 0.00001
NM_017739.4(POMGNT1):c.*404_*405dup rs940315351 0.00001
NM_017739.4(POMGNT1):c.1000A>G (p.Thr334Ala) rs1267806554 0.00001
NM_017739.4(POMGNT1):c.1010T>C (p.Ile337Thr) rs138745073 0.00001
NM_017739.4(POMGNT1):c.1100G>A (p.Arg367His) rs762972459 0.00001
NM_017739.4(POMGNT1):c.1102G>A (p.Val368Met) rs1332597566 0.00001
NM_017739.4(POMGNT1):c.1110+9T>C rs1553163359 0.00001
NM_017739.4(POMGNT1):c.1151C>T (p.Pro384Leu) rs375845761 0.00001
NM_017739.4(POMGNT1):c.1152G>A (p.Pro384=) rs760312462 0.00001
NM_017739.4(POMGNT1):c.1157C>T (p.Ala386Val) rs778179887 0.00001
NM_017739.4(POMGNT1):c.1192A>G (p.Ile398Val) rs1460430901 0.00001
NM_017739.4(POMGNT1):c.1198G>C (p.Val400Leu) rs749863346 0.00001
NM_017739.4(POMGNT1):c.1284+5G>T rs1257224073 0.00001
NM_017739.4(POMGNT1):c.1342G>C (p.Gly448Arg) rs386834014 0.00001
NM_017739.4(POMGNT1):c.1409A>G (p.Glu470Gly) rs781221088 0.00001
NM_017739.4(POMGNT1):c.1438C>T (p.Arg480Trp) rs1011150724 0.00001
NM_017739.4(POMGNT1):c.1439G>A (p.Arg480Gln) rs779428703 0.00001
NM_017739.4(POMGNT1):c.1482C>T (p.Asp494=) rs769213562 0.00001
NM_017739.4(POMGNT1):c.1490G>A (p.Arg497Gln) rs573518562 0.00001
NM_017739.4(POMGNT1):c.1513G>A (p.Gly505Ser) rs760705290 0.00001
NM_017739.4(POMGNT1):c.1561A>G (p.Lys521Glu) rs764394085 0.00001
NM_017739.4(POMGNT1):c.1596T>C (p.Asn532=) rs200730202 0.00001
NM_017739.4(POMGNT1):c.1632A>C (p.Glu544Asp) rs149482430 0.00001
NM_017739.4(POMGNT1):c.1669C>A (p.His557Asn) rs761426941 0.00001
NM_017739.4(POMGNT1):c.1721C>T (p.Thr574Ile) rs556069604 0.00001
NM_017739.4(POMGNT1):c.1780G>T (p.Ala594Ser) rs749960797 0.00001
NM_017739.4(POMGNT1):c.1847G>A (p.Arg616Gln) rs775534917 0.00001
NM_017739.4(POMGNT1):c.1865T>C (p.Leu622Pro) rs377170894 0.00001
NM_017739.4(POMGNT1):c.1880C>T (p.Pro627Leu) rs200143169 0.00001
NM_017739.4(POMGNT1):c.1906C>T (p.Pro636Ser) rs771922809 0.00001
NM_017739.4(POMGNT1):c.1910C>T (p.Pro637Leu) rs1467007123 0.00001
NM_017739.4(POMGNT1):c.1911C>G (p.Pro637=) rs747815387 0.00001
NM_017739.4(POMGNT1):c.1975C>T (p.Gln659Ter) rs766290773 0.00001
NM_017739.4(POMGNT1):c.358C>G (p.Leu120Val) rs373016708 0.00001
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp) rs375431575 0.00001
NM_017739.4(POMGNT1):c.386G>A (p.Arg129Gln) rs770188918 0.00001
NM_017739.4(POMGNT1):c.418A>G (p.Thr140Ala) rs886042796 0.00001
NM_017739.4(POMGNT1):c.439C>T (p.Arg147Cys) rs780641373 0.00001
NM_017739.4(POMGNT1):c.442G>T (p.Val148Leu) rs770366321 0.00001
NM_017739.4(POMGNT1):c.452C>T (p.Thr151Met) rs886044363 0.00001
NM_017739.4(POMGNT1):c.478A>G (p.Met160Val) rs1355389149 0.00001
NM_017739.4(POMGNT1):c.503C>T (p.Ala168Val) rs200643988 0.00001
NM_017739.4(POMGNT1):c.553C>G (p.Leu185Val) rs757919524 0.00001
NM_017739.4(POMGNT1):c.562A>G (p.Thr188Ala) rs868433749 0.00001
NM_017739.4(POMGNT1):c.637G>A (p.Val213Met) rs1239939744 0.00001
NM_017739.4(POMGNT1):c.652+5C>T rs771669680 0.00001
NM_017739.4(POMGNT1):c.677C>T (p.Ser226Phe) rs147938876 0.00001
NM_017739.4(POMGNT1):c.691C>G (p.Leu231Val) rs771429702 0.00001
NM_017739.4(POMGNT1):c.712G>C (p.Val238Leu) rs755032396 0.00001
NM_017739.4(POMGNT1):c.751+4G>C rs768307488 0.00001
NM_017739.4(POMGNT1):c.758A>T (p.Glu253Val) rs886043972 0.00001
NM_017739.4(POMGNT1):c.790C>T (p.Arg264Cys) rs369306680 0.00001
NM_017739.4(POMGNT1):c.791G>A (p.Arg264His) rs748559972 0.00001
NM_017739.4(POMGNT1):c.793C>T (p.Arg265Cys) rs774752168 0.00001
NM_017739.4(POMGNT1):c.799C>T (p.Arg267Cys) rs148131756 0.00001
NM_017739.4(POMGNT1):c.813A>C (p.Lys271Asn) rs757156888 0.00001
NM_017739.4(POMGNT1):c.824A>G (p.Tyr275Cys) rs200789546 0.00001
NM_017739.4(POMGNT1):c.862G>A (p.Glu288Lys) rs1476814352 0.00001
NM_017739.4(POMGNT1):c.889A>G (p.Asn297Asp) rs752393375 0.00001
NM_017739.4(POMGNT1):c.902A>G (p.Asn301Ser) rs754653320 0.00001
NM_017739.4(POMGNT1):c.908C>T (p.Pro303Leu) rs753453050 0.00001
NM_017739.4(POMGNT1):c.921T>G (p.Ile307Met) rs71653997 0.00001
NM_017739.4(POMGNT1):c.926G>A (p.Gly309Glu) rs752124301 0.00001
NM_017739.4(POMGNT1):c.959G>A (p.Arg320His) rs368653589 0.00001
NM_017739.4(POMGNT1):c.959G>T (p.Arg320Leu) rs368653589 0.00001
NM_017739.4(POMGNT1):c.979G>A (p.Gly327Arg) rs1306444778 0.00001
NM_017739.4(POMGNT1):c.988C>T (p.Pro330Ser) rs748027760 0.00001
NC_000001.10:g.(?_46654371)_(46663513_?)dup
NM_017739.4(POMGNT1):c.*207G>A rs1657534329
NM_017739.4(POMGNT1):c.*2A>T rs1188540095
NM_017739.4(POMGNT1):c.*335_*361del rs754791169
NM_017739.4(POMGNT1):c.*457C>T rs1657513729
NM_017739.4(POMGNT1):c.*499G>A rs866924336
NM_017739.4(POMGNT1):c.*513del rs1553162438
NM_017739.4(POMGNT1):c.*5TCC[1] rs780919404
NM_017739.4(POMGNT1):c.1001C>T (p.Thr334Ile) rs1027415099
NM_017739.4(POMGNT1):c.1007T>C (p.Phe336Ser) rs886046385
NM_017739.4(POMGNT1):c.1009A>G (p.Ile337Val)
NM_017739.4(POMGNT1):c.1011dup (p.Asp338Ter) rs751254522
NM_017739.4(POMGNT1):c.1017CTA[1] (p.Tyr341del) rs2148194204
NM_017739.4(POMGNT1):c.1022A>G (p.Tyr341Cys)
NM_017739.4(POMGNT1):c.1026+3G>A
NM_017739.4(POMGNT1):c.1027-2_1027-1del rs1057516536
NM_017739.4(POMGNT1):c.1031C>T (p.Pro344Leu)
NM_017739.4(POMGNT1):c.1036G>C (p.Asp346His) rs754255569
NM_017739.4(POMGNT1):c.1042G>A (p.Val348Met) rs2148192741
NM_017739.4(POMGNT1):c.1055G>A (p.Gly352Asp) rs1195736220
NM_017739.4(POMGNT1):c.1064G>A (p.Gly355Asp) rs2148192555
NM_017739.4(POMGNT1):c.1082T>C (p.Ile361Thr) rs1553163380
NM_017739.4(POMGNT1):c.1085G>C (p.Ser362Thr)
NM_017739.4(POMGNT1):c.1091A>G (p.Lys364Arg) rs1557673272
NM_017739.4(POMGNT1):c.1109A>T (p.Gln370Leu)
NM_017739.4(POMGNT1):c.1110+3A>G
NM_017739.4(POMGNT1):c.1110+5T>A
NM_017739.4(POMGNT1):c.1111-10C>A rs1277266739
NM_017739.4(POMGNT1):c.1111-7C>T rs1414733588
NM_017739.4(POMGNT1):c.1117A>C (p.Lys373Gln) rs752591703
NM_017739.4(POMGNT1):c.1132G>A (p.Ala378Thr)
NM_017739.4(POMGNT1):c.1140C>A (p.Phe380Leu)
NM_017739.4(POMGNT1):c.1142A>C (p.Asn381Thr) rs140846775
NM_017739.4(POMGNT1):c.1149T>G (p.Phe383Leu) rs2148191200
NM_017739.4(POMGNT1):c.1152+1G>A rs1474858292
NM_017739.4(POMGNT1):c.1152+3G>A rs1657923881
NM_017739.4(POMGNT1):c.1153G>C (p.Glu385Gln) rs2148189653
NM_017739.4(POMGNT1):c.1154A>T (p.Glu385Val) rs1657900516
NM_017739.4(POMGNT1):c.1160A>G (p.Lys387Arg) rs1351958771
NM_017739.4(POMGNT1):c.1165G>T (p.Ala389Ser) rs374639571
NM_017739.4(POMGNT1):c.1168G>A (p.Val390Met) rs779045970
NM_017739.4(POMGNT1):c.1201G>A (p.Asp401Asn) rs1657895778
NM_017739.4(POMGNT1):c.1211+6G>A
NM_017739.4(POMGNT1):c.1212-3C>G
NM_017739.4(POMGNT1):c.1212-3_1212-2del rs1064797111
NM_017739.4(POMGNT1):c.1226C>A (p.Ser409Tyr) rs1259024068
NM_017739.4(POMGNT1):c.1264A>C (p.Ile422Leu) rs1553163234
NM_017739.4(POMGNT1):c.1274G>C (p.Trp425Ser) rs386834011
NM_017739.4(POMGNT1):c.1284+3A>C
NM_017739.4(POMGNT1):c.1284+4G>A rs2148187138
NM_017739.4(POMGNT1):c.1284+6C>T
NM_017739.4(POMGNT1):c.1285-2A>G rs386834012
NM_017739.4(POMGNT1):c.1286G>A (p.Gly429Glu)
NM_017739.4(POMGNT1):c.1294C>G (p.His432Asp)
NM_017739.4(POMGNT1):c.1300G>A (p.Ala434Thr) rs2148186054
NM_017739.4(POMGNT1):c.1332G>T (p.Glu444Asp) rs2148185834
NM_017739.4(POMGNT1):c.1338G>A (p.Met446Ile) rs1571655190
NM_017739.4(POMGNT1):c.1344G>T (p.Gly448=) rs183932527
NM_017739.4(POMGNT1):c.1373A>G (p.Tyr458Cys)
NM_017739.4(POMGNT1):c.1377G>C (p.Lys459Asn)
NM_017739.4(POMGNT1):c.1387G>C (p.Glu463Gln)
NM_017739.4(POMGNT1):c.1391C>T (p.Pro464Leu)
NM_017739.4(POMGNT1):c.1395G>C (p.Lys465Asn) rs1657843296
NM_017739.4(POMGNT1):c.1402A>G (p.Thr468Ala)
NM_017739.4(POMGNT1):c.1403C>T (p.Thr468Ile) rs2148185390
NM_017739.4(POMGNT1):c.1406C>T (p.Pro469Leu) rs769879467
NM_017739.4(POMGNT1):c.1413+1G>C rs587777821
NM_017739.4(POMGNT1):c.1413+6T>G rs1160554172
NM_017739.4(POMGNT1):c.1414C>A (p.Leu472Ile) rs1253221637
NM_017739.4(POMGNT1):c.1430T>C (p.Met477Thr)
NM_017739.4(POMGNT1):c.1435A>G (p.Met479Val)
NM_017739.4(POMGNT1):c.1456C>G (p.Arg486Gly) rs534543454
NM_017739.4(POMGNT1):c.1456C>T (p.Arg486Trp)
NM_017739.4(POMGNT1):c.1457G>T (p.Arg486Leu) rs753030030
NM_017739.4(POMGNT1):c.1462C>G (p.Arg488Gly) rs727504103
NM_017739.4(POMGNT1):c.1465G>A (p.Glu489Lys)
NM_017739.4(POMGNT1):c.1499A>C (p.His500Pro)
NM_017739.4(POMGNT1):c.1501T>C (p.Phe501Leu) rs753120009
NM_017739.4(POMGNT1):c.1510G>T (p.Val504Phe) rs17102066
NM_017739.4(POMGNT1):c.1521C>G (p.Asn507Lys) rs767617711
NM_017739.4(POMGNT1):c.1523T>C (p.Met508Thr) rs1571653937
NM_017739.4(POMGNT1):c.1539+16G>T rs2148183113
NM_017739.4(POMGNT1):c.1540-16C>G
NM_017739.4(POMGNT1):c.1540-3C>T
NM_017739.4(POMGNT1):c.1547A>C (p.Tyr516Ser)
NM_017739.4(POMGNT1):c.1571C>G (p.Thr524Arg) rs769180238
NM_017739.4(POMGNT1):c.1588C>T (p.Leu530Phe)
NM_017739.4(POMGNT1):c.1597G>T (p.Val533Leu) rs1657700266
NM_017739.4(POMGNT1):c.1605-15C>T
NM_017739.4(POMGNT1):c.1605-3C>T rs1457187510
NM_017739.4(POMGNT1):c.1615G>A (p.Glu539Lys) rs1657679725
NM_017739.4(POMGNT1):c.1634T>C (p.Val545Ala) rs1657678070
NM_017739.4(POMGNT1):c.1636C>T (p.His546Tyr) rs970460430
NM_017739.4(POMGNT1):c.1648A>G (p.Ser550Gly) rs2148172085
NM_017739.4(POMGNT1):c.1651G>A (p.Glu551Lys)
NM_017739.4(POMGNT1):c.1681C>T (p.Pro561Ser) rs2148167563
NM_017739.4(POMGNT1):c.1693T>A (p.Ser565Thr) rs753688195
NM_017739.4(POMGNT1):c.1693T>C (p.Ser565Pro) rs753688195
NM_017739.4(POMGNT1):c.1698C>T (p.Phe566=) rs1657621738
NM_017739.4(POMGNT1):c.1708A>G (p.Thr570Ala)
NM_017739.4(POMGNT1):c.1711G>A (p.Glu571Lys)
NM_017739.4(POMGNT1):c.1712A>G (p.Glu571Gly) rs1204034604
NM_017739.4(POMGNT1):c.1726G>A (p.Val576Met)
NM_017739.4(POMGNT1):c.1729G>A (p.Ala577Thr) rs1343659692
NM_017739.4(POMGNT1):c.1739G>A (p.Arg580Gln)
NM_017739.4(POMGNT1):c.1742T>C (p.Met581Thr)
NM_017739.4(POMGNT1):c.1752TGA[1] (p.Asp586del) rs777715386
NM_017739.4(POMGNT1):c.1763C>T (p.Thr588Ile)
NM_017739.4(POMGNT1):c.1777C>T (p.Leu593Phe)
NM_017739.4(POMGNT1):c.1802A>G (p.Asp601Gly)
NM_017739.4(POMGNT1):c.1828G>T (p.Gly610Cys) rs1657578489
NM_017739.4(POMGNT1):c.1839A>G (p.Arg613=) rs1657576580
NM_017739.4(POMGNT1):c.1842_1844del (p.Leu614del) rs1553162667
NM_017739.4(POMGNT1):c.1844T>G (p.Phe615Cys) rs2148163569
NM_017739.4(POMGNT1):c.1846C>G (p.Arg616Gly) rs763071717
NM_017739.4(POMGNT1):c.1846C>T (p.Arg616Trp) rs763071717
NM_017739.4(POMGNT1):c.1848GAA[2] (p.Lys618del) rs1435566919
NM_017739.4(POMGNT1):c.1867A>C (p.Met623Leu) rs6659553
NM_017739.4(POMGNT1):c.1876G>A (p.Val626Ile) rs199723646
NM_017739.4(POMGNT1):c.1878C>T (p.Val626=) rs1657570765
NM_017739.4(POMGNT1):c.1888C>T (p.Pro630Ser)
NM_017739.4(POMGNT1):c.1889C>G (p.Pro630Arg) rs747723242
NM_017739.4(POMGNT1):c.1895C>G (p.Ser632Ter) rs200471699
NM_017739.4(POMGNT1):c.1897G>A (p.Val633Met) rs1657559085
NM_017739.4(POMGNT1):c.1898T>A (p.Val633Glu) rs1285505849
NM_017739.4(POMGNT1):c.1913C>T (p.Ser638Leu) rs2148162135
NM_017739.4(POMGNT1):c.1919C>T (p.Thr640Ile) rs748799436
NM_017739.4(POMGNT1):c.1924A>G (p.Ile642Val) rs757749808
NM_017739.4(POMGNT1):c.1924A>T (p.Ile642Phe) rs757749808
NM_017739.4(POMGNT1):c.1936C>T (p.Pro646Ser) rs1442072528
NM_017739.4(POMGNT1):c.1939C>G (p.Pro647Ala) rs2148161781
NM_017739.4(POMGNT1):c.1939C>T (p.Pro647Ser)
NM_017739.4(POMGNT1):c.1945A>C (p.Lys649Gln) rs752942416
NM_017739.4(POMGNT1):c.1947G>T (p.Lys649Asn) rs144068158
NM_017739.4(POMGNT1):c.1950G>C (p.Glu650Asp) rs2148161681
NM_017739.4(POMGNT1):c.1966_1974dup (p.Ala656_Glu658dup) rs1553162587
NM_017739.4(POMGNT1):c.1970C>T (p.Pro657Leu)
NM_017739.4(POMGNT1):c.355-3T>G rs1553163972
NM_017739.4(POMGNT1):c.355-8C>G rs2148213723
NM_017739.4(POMGNT1):c.373C>G (p.Arg125Gly)
NM_017739.4(POMGNT1):c.373C>T (p.Arg125Trp)
NM_017739.4(POMGNT1):c.374G>A (p.Arg125Gln)
NM_017739.4(POMGNT1):c.389G>A (p.Gly130Asp) rs1197810838
NM_017739.4(POMGNT1):c.400A>G (p.Ile134Val) rs771101711
NM_017739.4(POMGNT1):c.415G>C (p.Ala139Pro) rs764809782
NM_017739.4(POMGNT1):c.419C>T (p.Thr140Met) rs766157232
NM_017739.4(POMGNT1):c.420+3G>C
NM_017739.4(POMGNT1):c.420+4A>G
NM_017739.4(POMGNT1):c.421-10C>A rs2148212526
NM_017739.4(POMGNT1):c.421-3C>T rs1658202678
NM_017739.4(POMGNT1):c.422G>A (p.Gly141Asp) rs2148212411
NM_017739.4(POMGNT1):c.434C>T (p.Ala145Val) rs2148212293
NM_017739.4(POMGNT1):c.436A>G (p.Lys146Glu)
NM_017739.4(POMGNT1):c.452C>A (p.Thr151Lys) rs886044363
NM_017739.4(POMGNT1):c.461C>A (p.Pro154His) rs886043030
NM_017739.4(POMGNT1):c.476C>A (p.Ala159Asp) rs2148211902
NM_017739.4(POMGNT1):c.490C>G (p.Leu164Val) rs2148211802
NM_017739.4(POMGNT1):c.494A>G (p.Asn165Ser)
NM_017739.4(POMGNT1):c.506C>T (p.Pro169Leu) rs1271259700
NM_017739.4(POMGNT1):c.508G>A (p.Gly170Ser) rs1164265990
NM_017739.4(POMGNT1):c.512G>A (p.Arg171Gln) rs1046275062
NM_017739.4(POMGNT1):c.512_517dup (p.Arg171_Val172dup) rs1553163909
NM_017739.4(POMGNT1):c.526A>C (p.Thr176Pro) rs386834030
NM_017739.4(POMGNT1):c.541G>A (p.Gly181Ser) rs2148205851
NM_017739.4(POMGNT1):c.544T>C (p.Ser182Pro) rs2148205834
NM_017739.4(POMGNT1):c.557A>G (p.Lys186Arg) rs2148205697
NM_017739.4(POMGNT1):c.563_564del (p.Thr188fs) rs757322014
NM_017739.4(POMGNT1):c.565G>C (p.Ala189Pro) rs949714416
NM_017739.4(POMGNT1):c.567C>T (p.Ala189=)
NM_017739.4(POMGNT1):c.599C>T (p.Ala200Val) rs1658103117
NM_017739.4(POMGNT1):c.607G>A (p.Ala203Thr) rs982953590
NM_017739.4(POMGNT1):c.623A>T (p.Asp208Val)
NM_017739.4(POMGNT1):c.626C>T (p.Thr209Ile) rs1571664089
NM_017739.4(POMGNT1):c.628T>C (p.Trp210Arg) rs1658098171
NM_017739.4(POMGNT1):c.631G>A (p.Ala211Thr) rs1201476826
NM_017739.4(POMGNT1):c.652+3G>A
NM_017739.4(POMGNT1):c.653-2del
NM_017739.4(POMGNT1):c.656C>T (p.Pro219Leu) rs1244157163
NM_017739.4(POMGNT1):c.658G>A (p.Val220Ile) rs1349291334
NM_017739.4(POMGNT1):c.664G>C (p.Gly222Arg)
NM_017739.4(POMGNT1):c.667G>A (p.Glu223Lys) rs386834036
NM_017739.4(POMGNT1):c.669G>C (p.Glu223Asp) rs1658072717
NM_017739.4(POMGNT1):c.686C>T (p.Pro229Leu)
NM_017739.4(POMGNT1):c.688G>A (p.Ala230Thr)
NM_017739.4(POMGNT1):c.689C>G (p.Ala230Gly) rs921366442
NM_017739.4(POMGNT1):c.703G>A (p.Gly235Arg) rs1658069732
NM_017739.4(POMGNT1):c.706G>A (p.Asp236Asn)
NM_017739.4(POMGNT1):c.706G>C (p.Asp236His) rs201525710
NM_017739.4(POMGNT1):c.722A>G (p.Lys241Arg) rs2148202208
NM_017739.4(POMGNT1):c.730G>A (p.Val244Met)
NM_017739.4(POMGNT1):c.749A>G (p.Glu250Gly)
NM_017739.4(POMGNT1):c.751+3G>A
NM_017739.4(POMGNT1):c.751G>A (p.Glu251Lys) rs2148201993
NM_017739.4(POMGNT1):c.752-2A>G rs1236287516
NM_017739.4(POMGNT1):c.752A>T (p.Glu251Val) rs2148200734
NM_017739.4(POMGNT1):c.768G>C (p.Trp256Cys)
NM_017739.4(POMGNT1):c.780G>C (p.Glu260Asp)
NM_017739.4(POMGNT1):c.782T>C (p.Leu261Pro)
NM_017739.4(POMGNT1):c.794G>C (p.Arg265Pro) rs386834010
NM_017739.4(POMGNT1):c.808A>G (p.Ser270Gly) rs1216011919
NM_017739.4(POMGNT1):c.821G>A (p.Gly274Asp) rs1557674820
NM_017739.4(POMGNT1):c.842G>T (p.Cys281Phe) rs1658035130
NM_017739.4(POMGNT1):c.857C>A (p.Pro286His)
NM_017739.4(POMGNT1):c.871C>T (p.Pro291Ser)
NM_017739.4(POMGNT1):c.874G>C (p.Asp292His) rs930277247
NM_017739.4(POMGNT1):c.913G>T (p.Ala305Ser)
NM_017739.4(POMGNT1):c.914C>T (p.Ala305Val) rs2148196499
NM_017739.4(POMGNT1):c.921T>A (p.Ile307=) rs71653997
NM_017739.4(POMGNT1):c.927G>T (p.Gly309=) rs1375679237
NM_017739.4(POMGNT1):c.937A>C (p.Asn313His)
NM_017739.4(POMGNT1):c.938A>G (p.Asn313Ser)
NM_017739.4(POMGNT1):c.950G>A (p.Arg317Lys) rs1657992159
NM_017739.4(POMGNT1):c.997A>G (p.Ile333Val)

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.