ClinVar Miner

List of variants reported as uncertain significance for Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 351
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HGVS dbSNP gnomAD frequency
NM_017739.4(POMGNT1):c.120+3A>G rs543271070 0.00019
NM_017739.4(POMGNT1):c.1979C>T (p.Thr660Ile) rs377760450 0.00011
NM_017739.4(POMGNT1):c.22C>A (p.Pro8Thr) rs186444670 0.00011
NM_017739.4(POMGNT1):c.652+6G>A rs369289384 0.00011
NM_017739.4(POMGNT1):c.355G>A (p.Val119Met) rs148498470 0.00010
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.188G>A (p.Arg63Gln) rs141421141 0.00006
NM_017739.4(POMGNT1):c.986C>T (p.Ser329Phe) rs772102300 0.00006
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.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.208G>A (p.Glu70Lys) rs201361648 0.00004
NM_017739.4(POMGNT1):c.268C>T (p.Arg90Cys) rs144959783 0.00004
NM_017739.4(POMGNT1):c.354+3C>T rs372425155 0.00004
NM_017739.4(POMGNT1):c.772G>A (p.Asp258Asn) rs143736961 0.00004
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.1933G>C (p.Glu645Gln) rs778115320 0.00003
NM_017739.4(POMGNT1):c.287G>C (p.Arg96Pro) rs200227264 0.00003
NM_017739.4(POMGNT1):c.440G>A (p.Arg147His) rs776165339 0.00003
NM_017739.4(POMGNT1):c.46C>T (p.Arg16Trp) rs34058684 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.788G>A (p.Arg263His) rs146078296 0.00003
NM_017739.4(POMGNT1):c.888C>A (p.Asp296Glu) rs369970994 0.00003
NM_017739.4(POMGNT1):c.1027-5C>G rs779435288 0.00002
NM_017739.4(POMGNT1):c.106C>T (p.Arg36Trp) rs774633618 0.00002
NM_017739.4(POMGNT1):c.1142A>G (p.Asn381Ser) rs140846775 0.00002
NM_017739.4(POMGNT1):c.130G>A (p.Val44Met) rs764388322 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.1783A>G (p.Lys595Glu) rs797045896 0.00002
NM_017739.4(POMGNT1):c.185G>C (p.Arg62Pro) rs779506923 0.00002
NM_017739.4(POMGNT1):c.277A>G (p.Ser93Gly) rs751402236 0.00002
NM_017739.4(POMGNT1):c.286C>T (p.Arg96Trp) rs770834730 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.1000A>G (p.Thr334Ala) rs1267806554 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.110G>T (p.Arg37Ile) rs144746222 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.120+6G>C rs1344774466 0.00001
NM_017739.4(POMGNT1):c.1284+5G>T rs1257224073 0.00001
NM_017739.4(POMGNT1):c.137T>C (p.Phe46Ser) rs1314508009 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.1490G>A (p.Arg497Gln) rs573518562 0.00001
NM_017739.4(POMGNT1):c.1561A>G (p.Lys521Glu) rs764394085 0.00001
NM_017739.4(POMGNT1):c.157G>A (p.Val53Ile) rs766383336 0.00001
NM_017739.4(POMGNT1):c.160A>G (p.Asn54Asp) rs546654268 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.172A>G (p.Ile58Val) rs886044042 0.00001
NM_017739.4(POMGNT1):c.1780G>T (p.Ala594Ser) rs749960797 0.00001
NM_017739.4(POMGNT1):c.181A>G (p.Thr61Ala) rs768245322 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.1975C>T (p.Gln659Ter) rs766290773 0.00001
NM_017739.4(POMGNT1):c.250C>T (p.Arg84Cys) rs1238403887 0.00001
NM_017739.4(POMGNT1):c.304G>A (p.Glu102Lys) rs749603354 0.00001
NM_017739.4(POMGNT1):c.313T>C (p.Ser105Pro) rs780158040 0.00001
NM_017739.4(POMGNT1):c.325A>G (p.Lys109Glu) rs1459243404 0.00001
NM_017739.4(POMGNT1):c.330A>G (p.Val110=) rs1658269711 0.00001
NM_017739.4(POMGNT1):c.358C>G (p.Leu120Val) rs373016708 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.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.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
NC_000001.10:g.(?_46654381)_(46659607_?)dup
NC_000001.10:g.(?_46654904)_(46660083_?)dup
NC_000001.10:g.(?_46654942)_(46655681_?)dup
NC_000001.10:g.(?_46654942)_(46656476_?)dup
NC_000001.10:g.(?_46654942)_(46661769_?)dup
NC_000001.10:g.(?_46654942)_(46663493_?)dup
NC_000001.11:g.(?_46188709)_(46194411_?)dup
NC_000001.11:g.(?_46189232)_(46197831_?)dup
NM_017739.4(POMGNT1):c.1001C>T (p.Thr334Ile) rs1027415099
NM_017739.4(POMGNT1):c.1009A>G (p.Ile337Val)
NM_017739.4(POMGNT1):c.100G>A (p.Ala34Thr) rs1658356810
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.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.104T>A (p.Leu35Gln) rs2148222413
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.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+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.115T>C (p.Cys39Arg)
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.116G>C (p.Cys39Ser) rs775392834
NM_017739.4(POMGNT1):c.120+4T>C rs1223030962
NM_017739.4(POMGNT1):c.1201G>A (p.Asp401Asn) rs1657895778
NM_017739.4(POMGNT1):c.120G>A (p.Gln40=) rs1658354104
NM_017739.4(POMGNT1):c.121-3C>T rs2148219601
NM_017739.4(POMGNT1):c.1211+6G>A
NM_017739.4(POMGNT1):c.1212-3C>G
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.127G>A (p.Ala43Thr)
NM_017739.4(POMGNT1):c.127G>C (p.Ala43Pro)
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.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.134T>A (p.Leu45His) rs2148219431
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+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.144G>A (p.Leu48=) rs776815245
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.151G>A (p.Val51Ile) rs2148219344
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.163A>G (p.Ile55Val) rs2148219236
NM_017739.4(POMGNT1):c.1651G>A (p.Glu551Lys)
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.169T>G (p.Leu57Val)
NM_017739.4(POMGNT1):c.16C>T (p.Pro6Ser) rs1553164303
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.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.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.184C>G (p.Arg62Gly) rs1352412667
NM_017739.4(POMGNT1):c.184C>T (p.Arg62Trp) rs1352412667
NM_017739.4(POMGNT1):c.185G>A (p.Arg62Gln) rs779506923
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.1888C>T (p.Pro630Ser)
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.1950G>C (p.Glu650Asp) rs2148161681
NM_017739.4(POMGNT1):c.196A>G (p.Ser66Gly)
NM_017739.4(POMGNT1):c.1970C>T (p.Pro657Leu)
NM_017739.4(POMGNT1):c.19A>G (p.Ser7Gly) rs2148222925
NM_017739.4(POMGNT1):c.214C>T (p.Pro72Ser) rs2148218769
NM_017739.4(POMGNT1):c.235G>A (p.Asp79Asn) rs1658296449
NM_017739.4(POMGNT1):c.237T>G (p.Asp79Glu) rs748566125
NM_017739.4(POMGNT1):c.251G>A (p.Arg84His) rs373866304
NM_017739.4(POMGNT1):c.251G>T (p.Arg84Leu) rs373866304
NM_017739.4(POMGNT1):c.256G>C (p.Glu86Gln) rs1658280808
NM_017739.4(POMGNT1):c.259C>T (p.Pro87Ser) rs1557677993
NM_017739.4(POMGNT1):c.265C>T (p.Arg89Trp)
NM_017739.4(POMGNT1):c.275G>A (p.Gly92Asp) rs761706300
NM_017739.4(POMGNT1):c.284C>T (p.Pro95Leu) rs1334885135
NM_017739.4(POMGNT1):c.287G>A (p.Arg96Gln) rs200227264
NM_017739.4(POMGNT1):c.30C>G (p.Ile10Met) rs781102649
NM_017739.4(POMGNT1):c.310T>G (p.Tyr104Asp) rs2148217123
NM_017739.4(POMGNT1):c.320G>A (p.Arg107His) rs527454065
NM_017739.4(POMGNT1):c.328G>T (p.Val110Leu) rs762760509
NM_017739.4(POMGNT1):c.341T>C (p.Val114Ala) rs2148216895
NM_017739.4(POMGNT1):c.353C>T (p.Thr118Met)
NM_017739.4(POMGNT1):c.354+6T>C rs1208898067
NM_017739.4(POMGNT1):c.354G>A (p.Thr118=)
NM_017739.4(POMGNT1):c.354G>C (p.Thr118=)
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.38T>G (p.Phe13Cys)
NM_017739.4(POMGNT1):c.400A>G (p.Ile134Val) rs771101711
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.476C>A (p.Ala159Asp) rs2148211902
NM_017739.4(POMGNT1):c.47G>A (p.Arg16Gln)
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.52A>G (p.Lys18Glu) rs1553164287
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.55C>T (p.Arg19Trp) rs757941122
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.61T>C (p.Trp21Arg) rs2148222670
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.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.6C>G (p.Asp2Glu)
NM_017739.4(POMGNT1):c.706G>A (p.Asp236Asn)
NM_017739.4(POMGNT1):c.706G>C (p.Asp236His) rs201525710
NM_017739.4(POMGNT1):c.70A>G (p.Thr24Ala) rs766907690
NM_017739.4(POMGNT1):c.730G>A (p.Val244Met)
NM_017739.4(POMGNT1):c.749A>G (p.Glu250Gly)
NM_017739.4(POMGNT1):c.74_75delinsTT (p.Trp25Phe) rs2148222600
NM_017739.4(POMGNT1):c.751+3G>A
NM_017739.4(POMGNT1):c.751G>A (p.Glu251Lys) rs2148201993
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.7G>C (p.Asp3His) rs201637813
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.97C>T (p.Arg33Trp) rs750839370
NM_017739.4(POMGNT1):c.997A>G (p.Ile333Val)

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