ClinVar Miner

List of variants reported as uncertain significance for muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 314
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_013382.7(POMT2):c.1903G>A (p.Val635Ile) rs142299878 0.00061
NM_013382.7(POMT2):c.229G>A (p.Asp77Asn) rs200992827 0.00051
NM_013382.7(POMT2):c.2086C>A (p.Pro696Thr) rs76700503 0.00041
NM_013382.7(POMT2):c.1691C>T (p.Thr564Met) rs142445941 0.00023
NM_013382.7(POMT2):c.293A>G (p.Asn98Ser) rs368034790 0.00022
NM_013382.7(POMT2):c.1397G>A (p.Arg466Gln) rs138266415 0.00019
NM_013382.7(POMT2):c.1321G>A (p.Gly441Ser) rs199743727 0.00016
NM_013382.7(POMT2):c.2083T>A (p.Trp695Arg) rs139308429 0.00016
NM_013382.7(POMT2):c.656+3C>G rs561052172 0.00015
NM_013382.7(POMT2):c.1337G>A (p.Gly446Glu) rs376649599 0.00013
NM_013382.7(POMT2):c.148C>G (p.Arg50Gly) rs550420394 0.00013
NM_013382.7(POMT2):c.1889C>T (p.Ala630Val) rs752214239 0.00012
NM_013382.7(POMT2):c.1250A>G (p.Lys417Arg) rs147268052 0.00011
NM_013382.7(POMT2):c.1363C>T (p.Arg455Trp) rs398124261 0.00010
NM_013382.7(POMT2):c.2056C>T (p.Arg686Trp) rs727502859 0.00010
NM_013382.7(POMT2):c.1978G>T (p.Val660Phe) rs200690151 0.00009
NM_013382.7(POMT2):c.424A>G (p.Met142Val) rs148938943 0.00009
NM_013382.7(POMT2):c.700G>A (p.Val234Ile) rs576822260 0.00009
NM_013382.7(POMT2):c.844C>T (p.Arg282Cys) rs200204831 0.00009
NM_013382.7(POMT2):c.1141T>C (p.Tyr381His) rs369489033 0.00008
NM_013382.7(POMT2):c.133C>T (p.Pro45Ser) rs780976004 0.00008
NM_013382.7(POMT2):c.1386A>C (p.Lys462Asn) rs567557121 0.00008
NM_013382.7(POMT2):c.29C>T (p.Ala10Val) rs183558313 0.00008
NM_013382.7(POMT2):c.1552G>A (p.Val518Met) rs200762716 0.00007
NM_013382.7(POMT2):c.1396C>T (p.Arg466Trp) rs763119319 0.00006
NM_013382.7(POMT2):c.1485-3C>T rs754892193 0.00006
NM_013382.7(POMT2):c.1871G>A (p.Arg624Gln) rs369365744 0.00006
NM_013382.7(POMT2):c.1936G>A (p.Gly646Ser) rs767592155 0.00006
NM_013382.7(POMT2):c.640A>C (p.Asn214His) rs376485603 0.00006
NM_013382.7(POMT2):c.1124C>T (p.Thr375Ile) rs542912704 0.00005
NM_013382.7(POMT2):c.1127A>G (p.Tyr376Cys) rs1180170796 0.00005
NM_013382.7(POMT2):c.1733G>A (p.Arg578His) rs571330846 0.00005
NM_013382.7(POMT2):c.621G>A (p.Met207Ile) rs551885065 0.00005
NM_013382.7(POMT2):c.1081C>T (p.Leu361Phe) rs771509741 0.00004
NM_013382.7(POMT2):c.1106G>A (p.Arg369His) rs398124260 0.00004
NM_013382.7(POMT2):c.1142A>G (p.Tyr381Cys) rs375840897 0.00004
NM_013382.7(POMT2):c.128A>G (p.Lys43Arg) rs745417690 0.00004
NM_013382.7(POMT2):c.1700C>T (p.Pro567Leu) rs376689848 0.00004
NM_013382.7(POMT2):c.1732C>T (p.Arg578Cys) rs148466370 0.00004
NM_013382.7(POMT2):c.1785G>A (p.Pro595=) rs202237807 0.00004
NM_013382.7(POMT2):c.1913G>A (p.Arg638Gln) rs779390236 0.00004
NM_013382.7(POMT2):c.41T>C (p.Leu14Pro) rs777504929 0.00004
NM_013382.7(POMT2):c.61T>C (p.Cys21Arg) rs767316912 0.00004
NM_013382.7(POMT2):c.631G>A (p.Val211Ile) rs373139592 0.00004
NM_013382.7(POMT2):c.1121C>G (p.Thr374Ser) rs973161535 0.00003
NM_013382.7(POMT2):c.1135A>G (p.Lys379Glu) rs777172630 0.00003
NM_013382.7(POMT2):c.1653+4T>G rs555289061 0.00003
NM_013382.7(POMT2):c.1725+4G>A rs758851815 0.00003
NM_013382.7(POMT2):c.2072G>T (p.Gly691Val) rs758678348 0.00003
NM_013382.7(POMT2):c.599T>C (p.Met200Thr) rs921045202 0.00003
NM_013382.7(POMT2):c.769A>G (p.Thr257Ala) rs371988132 0.00003
NM_013382.7(POMT2):c.925G>A (p.Gly309Ser) rs376046816 0.00003
NM_013382.7(POMT2):c.1006+5G>A rs587780422 0.00002
NM_013382.7(POMT2):c.1006C>T (p.His336Tyr) rs765103940 0.00002
NM_013382.7(POMT2):c.1018G>A (p.Gly340Ser) rs778014493 0.00002
NM_013382.7(POMT2):c.1046G>A (p.Arg349Gln) rs756055923 0.00002
NM_013382.7(POMT2):c.1105C>T (p.Arg369Cys) rs779190087 0.00002
NM_013382.7(POMT2):c.1192G>C (p.Asp398His) rs145933402 0.00002
NM_013382.7(POMT2):c.1300C>T (p.Arg434Trp) rs768256055 0.00002
NM_013382.7(POMT2):c.1364G>A (p.Arg455Gln) rs757110456 0.00002
NM_013382.7(POMT2):c.1651C>T (p.Arg551Trp) rs751153662 0.00002
NM_013382.7(POMT2):c.1653+5G>T rs755390432 0.00002
NM_013382.7(POMT2):c.1711C>T (p.Pro571Ser) rs771812476 0.00002
NM_013382.7(POMT2):c.1927G>C (p.Val643Leu) rs966965226 0.00002
NM_013382.7(POMT2):c.320C>T (p.Pro107Leu) rs398124264 0.00002
NM_013382.7(POMT2):c.512C>T (p.Ser171Leu) rs750346960 0.00002
NM_013382.7(POMT2):c.807T>G (p.Ser269Arg) rs755782894 0.00002
NM_013382.7(POMT2):c.856C>T (p.Leu286Phe) rs375363915 0.00002
NM_013382.7(POMT2):c.886G>A (p.Ala296Thr) rs762885008 0.00002
NM_013382.7(POMT2):c.101C>T (p.Ala34Val) rs768585252 0.00001
NM_013382.7(POMT2):c.1033G>C (p.Val345Leu) rs779053591 0.00001
NM_013382.7(POMT2):c.1042C>G (p.Leu348Val) rs1158227625 0.00001
NM_013382.7(POMT2):c.1061A>C (p.Tyr354Ser) rs751206357 0.00001
NM_013382.7(POMT2):c.1094G>A (p.Gly365Asp) rs139830891 0.00001
NM_013382.7(POMT2):c.1116+4A>G rs779844724 0.00001
NM_013382.7(POMT2):c.1183+6G>C rs1381239018 0.00001
NM_013382.7(POMT2):c.1186C>T (p.Pro396Ser) rs764723711 0.00001
NM_013382.7(POMT2):c.1229A>T (p.Asp410Val) rs886043224 0.00001
NM_013382.7(POMT2):c.125C>T (p.Pro42Leu) rs912884835 0.00001
NM_013382.7(POMT2):c.1274G>C (p.Ser425Thr) rs774466835 0.00001
NM_013382.7(POMT2):c.1332+4A>G rs1201960470 0.00001
NM_013382.7(POMT2):c.1418G>A (p.Arg473Gln) rs1279458453 0.00001
NM_013382.7(POMT2):c.1424G>A (p.Arg475His) rs200976246 0.00001
NM_013382.7(POMT2):c.1433A>G (p.His478Arg) rs765346043 0.00001
NM_013382.7(POMT2):c.1451T>C (p.Val484Ala) rs761917543 0.00001
NM_013382.7(POMT2):c.1497G>C (p.Gln499His) rs141248257 0.00001
NM_013382.7(POMT2):c.1528G>A (p.Glu510Lys) rs186872560 0.00001
NM_013382.7(POMT2):c.1609A>G (p.Ser537Gly) rs1340953706 0.00001
NM_013382.7(POMT2):c.160G>T (p.Ala54Ser) rs1239345534 0.00001
NM_013382.7(POMT2):c.1667T>C (p.Leu556Pro) rs1890178559 0.00001
NM_013382.7(POMT2):c.1681A>G (p.Asn561Asp) rs1006561976 0.00001
NM_013382.7(POMT2):c.1769A>G (p.Tyr590Cys) rs1566644163 0.00001
NM_013382.7(POMT2):c.1790T>C (p.Val597Ala) rs1171196217 0.00001
NM_013382.7(POMT2):c.1870C>T (p.Arg624Trp) rs749335757 0.00001
NM_013382.7(POMT2):c.1877C>T (p.Pro626Leu) rs1262591820 0.00001
NM_013382.7(POMT2):c.1961T>G (p.Phe654Cys) rs769782374 0.00001
NM_013382.7(POMT2):c.1975C>T (p.Arg659Trp) rs372939905 0.00001
NM_013382.7(POMT2):c.1976G>A (p.Arg659Gln) rs770606360 0.00001
NM_013382.7(POMT2):c.2011C>T (p.Leu671Phe) rs200079313 0.00001
NM_013382.7(POMT2):c.2087C>T (p.Pro696Leu) rs1449000965 0.00001
NM_013382.7(POMT2):c.209C>T (p.Ala70Val) rs1891834567 0.00001
NM_013382.7(POMT2):c.20G>A (p.Gly7Glu) rs763325075 0.00001
NM_013382.7(POMT2):c.2108T>C (p.Val703Ala) rs770189006 0.00001
NM_013382.7(POMT2):c.2111C>T (p.Ala704Val) rs746221148 0.00001
NM_013382.7(POMT2):c.2116A>G (p.Ile706Val) rs1352547589 0.00001
NM_013382.7(POMT2):c.2147+5G>C rs1360206873 0.00001
NM_013382.7(POMT2):c.2171C>T (p.Ala724Val) rs1413994990 0.00001
NM_013382.7(POMT2):c.2176G>A (p.Gly726Arg) rs1471500386 0.00001
NM_013382.7(POMT2):c.224G>A (p.Arg75His) rs1200964688 0.00001
NM_013382.7(POMT2):c.227T>C (p.Leu76Ser) rs1349494437 0.00001
NM_013382.7(POMT2):c.244A>T (p.Ile82Phe) rs373944477 0.00001
NM_013382.7(POMT2):c.245T>A (p.Ile82Asn) rs563863191 0.00001
NM_013382.7(POMT2):c.248+20C>G rs1471456899 0.00001
NM_013382.7(POMT2):c.25C>G (p.Leu9Val) rs1280735533 0.00001
NM_013382.7(POMT2):c.275T>C (p.Met92Thr) rs775489616 0.00001
NM_013382.7(POMT2):c.295C>T (p.Arg99Cys) rs199719668 0.00001
NM_013382.7(POMT2):c.37G>A (p.Glu13Lys) rs747244194 0.00001
NM_013382.7(POMT2):c.47C>G (p.Pro16Arg) rs778898705 0.00001
NM_013382.7(POMT2):c.485C>T (p.Thr162Ile) rs753521608 0.00001
NM_013382.7(POMT2):c.50G>C (p.Arg17Pro) rs753326186 0.00001
NM_013382.7(POMT2):c.593T>A (p.Ile198Asn) rs267606972 0.00001
NM_013382.7(POMT2):c.613G>A (p.Ala205Thr) rs886043765 0.00001
NM_013382.7(POMT2):c.661T>A (p.Phe221Ile) rs746803006 0.00001
NM_013382.7(POMT2):c.671C>G (p.Pro224Arg) rs771995900 0.00001
NM_013382.7(POMT2):c.685C>T (p.Leu229Phe) rs754512099 0.00001
NM_013382.7(POMT2):c.756A>G (p.Gln252=) rs766529891 0.00001
NM_013382.7(POMT2):c.845G>A (p.Arg282His) rs756132642 0.00001
NM_013382.7(POMT2):c.890C>T (p.Thr297Ile) rs775548781 0.00001
NM_013382.7(POMT2):c.961G>A (p.Ala321Thr) rs770147545 0.00001
NC_000014.8:g.(?_77743719)_(77787024_?)dup
NM_013382.7(POMT2):c.1000C>T (p.Pro334Ser) rs1890916653
NM_013382.7(POMT2):c.1006+4_1006+7del rs1594794303
NM_013382.7(POMT2):c.1006C>A (p.His336Asn) rs765103940
NM_013382.7(POMT2):c.1012G>A (p.Ala338Thr) rs771636400
NM_013382.7(POMT2):c.1030A>C (p.Thr344Pro) rs1285454398
NM_013382.7(POMT2):c.1040A>C (p.Asn347Thr) rs371158744
NM_013382.7(POMT2):c.1045C>G (p.Arg349Gly) rs141339355
NM_013382.7(POMT2):c.1048A>G (p.Met350Val) rs749883166
NM_013382.7(POMT2):c.1088C>T (p.Pro363Leu) rs2140218751
NM_013382.7(POMT2):c.1103C>T (p.Ala368Val) rs1890820771
NM_013382.7(POMT2):c.1105C>A (p.Arg369Ser)
NM_013382.7(POMT2):c.1108C>A (p.Gln370Lys)
NM_013382.7(POMT2):c.1117-12C>G rs535647699
NM_013382.7(POMT2):c.1117G>C (p.Val373Leu)
NM_013382.7(POMT2):c.1169A>C (p.His390Pro)
NM_013382.7(POMT2):c.1187C>T (p.Pro396Leu)
NM_013382.7(POMT2):c.1189C>G (p.Leu397Val)
NM_013382.7(POMT2):c.118C>G (p.Arg40Gly) rs755650000
NM_013382.7(POMT2):c.1210G>A (p.Glu404Lys) rs2140195392
NM_013382.7(POMT2):c.1223A>G (p.His408Arg) rs1594787166
NM_013382.7(POMT2):c.1231A>G (p.Ile411Val)
NM_013382.7(POMT2):c.1231A>T (p.Ile411Phe)
NM_013382.7(POMT2):c.1238G>A (p.Arg413Gln) rs190285831
NM_013382.7(POMT2):c.1254-3T>C rs766683771
NM_013382.7(POMT2):c.1265A>G (p.Asn422Ser) rs2140188544
NM_013382.7(POMT2):c.1271A>G (p.His424Arg) rs1359158673
NM_013382.7(POMT2):c.1282_1284del (p.His428del) rs1594890912
NM_013382.7(POMT2):c.1291C>T (p.Pro431Ser)
NM_013382.7(POMT2):c.129_131del (p.Arg44del)
NM_013382.7(POMT2):c.1301G>A (p.Arg434Gln)
NM_013382.7(POMT2):c.1310A>G (p.Tyr437Cys)
NM_013382.7(POMT2):c.1332+19T>G rs1057522317
NM_013382.7(POMT2):c.1332+8A>C
NM_013382.7(POMT2):c.133C>G (p.Pro45Ala) rs780976004
NM_013382.7(POMT2):c.1348T>G (p.Ser450Ala)
NM_013382.7(POMT2):c.134C>G (p.Pro45Arg) rs753037500
NM_013382.7(POMT2):c.134C>T (p.Pro45Leu) rs753037500
NM_013382.7(POMT2):c.1382G>A (p.Arg461Lys) rs1030338170
NM_013382.7(POMT2):c.1385A>G (p.Lys462Arg)
NM_013382.7(POMT2):c.1394A>G (p.Asn465Ser)
NM_013382.7(POMT2):c.13A>T (p.Thr5Ser) rs1891858162
NM_013382.7(POMT2):c.1423C>A (p.Arg475Ser) rs746000047
NM_013382.7(POMT2):c.1426T>C (p.Phe476Leu) rs727502856
NM_013382.7(POMT2):c.1445G>T (p.Gly482Val) rs267606968
NM_013382.7(POMT2):c.1467A>T (p.Gly489=) rs1555352583
NM_013382.7(POMT2):c.1471G>C (p.Val491Leu)
NM_013382.7(POMT2):c.1480A>G (p.Lys494Glu)
NM_013382.7(POMT2):c.1484+1_1484+3dup rs1890389214
NM_013382.7(POMT2):c.1484+5G>A
NM_013382.7(POMT2):c.148C>T (p.Arg50Trp) rs550420394
NM_013382.7(POMT2):c.14C>G (p.Thr5Arg) rs760413289
NM_013382.7(POMT2):c.1538A>G (p.Asn513Ser)
NM_013382.7(POMT2):c.1540T>A (p.Ser514Thr) rs1566647081
NM_013382.7(POMT2):c.1568A>G (p.Asn523Ser) rs886042386
NM_013382.7(POMT2):c.1568A>T (p.Asn523Ile) rs886042386
NM_013382.7(POMT2):c.1570C>T (p.Pro524Ser) rs1421956619
NM_013382.7(POMT2):c.1571C>T (p.Pro524Leu)
NM_013382.7(POMT2):c.1574A>C (p.Lys525Thr) rs767137783
NM_013382.7(POMT2):c.1576+5G>A rs2140182723
NM_013382.7(POMT2):c.1604A>T (p.Gln535Leu) rs147882035
NM_013382.7(POMT2):c.160G>A (p.Ala54Thr)
NM_013382.7(POMT2):c.1621A>G (p.Ile541Val) rs2140179545
NM_013382.7(POMT2):c.1627C>G (p.Leu543Val)
NM_013382.7(POMT2):c.1637A>C (p.His546Pro)
NM_013382.7(POMT2):c.1645A>G (p.Met549Val) rs1555352401
NM_013382.7(POMT2):c.1654-5T>G
NM_013382.7(POMT2):c.1654-7C>A rs578133776
NM_013382.7(POMT2):c.1655G>A (p.Gly552Glu)
NM_013382.7(POMT2):c.1664G>T (p.Gly555Val)
NM_013382.7(POMT2):c.1666C>T (p.Leu556Phe) rs1890178718
NM_013382.7(POMT2):c.1673C>T (p.Pro558Leu) rs2140169524
NM_013382.7(POMT2):c.168C>T (p.Gly56=) rs2139550502
NM_013382.7(POMT2):c.16G>A (p.Gly6Ser) rs751918638
NM_013382.7(POMT2):c.1709G>T (p.Trp570Leu) rs910353997
NM_013382.7(POMT2):c.1721A>C (p.Tyr574Ser) rs142870987
NM_013382.7(POMT2):c.1721A>G (p.Tyr574Cys) rs142870987
NM_013382.7(POMT2):c.1730T>A (p.Leu577Gln)
NM_013382.7(POMT2):c.1744G>T (p.Val582Phe)
NM_013382.7(POMT2):c.1768T>C (p.Tyr590His) rs2140167504
NM_013382.7(POMT2):c.1774C>T (p.Leu592Phe)
NM_013382.7(POMT2):c.1816G>A (p.Ala606Thr)
NM_013382.7(POMT2):c.1822T>C (p.Tyr608His)
NM_013382.7(POMT2):c.1828C>T (p.Leu610Phe) rs1555351859
NM_013382.7(POMT2):c.1841T>A (p.Ile614Asn)
NM_013382.7(POMT2):c.1846G>A (p.Ala616Thr)
NM_013382.7(POMT2):c.1855A>G (p.Met619Val) rs1890143383
NM_013382.7(POMT2):c.1857G>C (p.Met619Ile) rs1594885046
NM_013382.7(POMT2):c.1885G>A (p.Val629Ile) rs777708372
NM_013382.7(POMT2):c.1888G>T (p.Ala630Ser) rs111857094
NM_013382.7(POMT2):c.190G>T (p.Val64Leu)
NM_013382.7(POMT2):c.1911_1934del (p.Arg638_Leu645del)
NM_013382.7(POMT2):c.1927G>A (p.Val643Ile)
NM_013382.7(POMT2):c.2001C>G (p.Phe667Leu)
NM_013382.7(POMT2):c.2022C>T (p.Ser674=) rs1566642798
NM_013382.7(POMT2):c.2023A>G (p.Met675Val) rs2140161882
NM_013382.7(POMT2):c.2024T>C (p.Met675Thr)
NM_013382.7(POMT2):c.2030C>A (p.Thr677Lys) rs2140161863
NM_013382.7(POMT2):c.2030C>T (p.Thr677Ile)
NM_013382.7(POMT2):c.2035A>G (p.Ile679Val)
NM_013382.7(POMT2):c.2048C>A (p.Thr683Asn)
NM_013382.7(POMT2):c.2083T>C (p.Trp695Arg) rs139308429
NM_013382.7(POMT2):c.2085_2086delinsTT (p.Trp695_Pro696delinsCysSer) rs1566642523
NM_013382.7(POMT2):c.2101A>T (p.Ile701Leu) rs146367996
NM_013382.7(POMT2):c.2125C>G (p.Leu709Val)
NM_013382.7(POMT2):c.2128C>G (p.Leu710Val) rs2140160442
NM_013382.7(POMT2):c.2146A>T (p.Ser716Cys)
NM_013382.7(POMT2):c.2161C>T (p.His721Tyr) rs2140157155
NM_013382.7(POMT2):c.2164C>T (p.Pro722Ser) rs1890012951
NM_013382.7(POMT2):c.2182G>A (p.Val728Ile) rs1367401943
NM_013382.7(POMT2):c.220C>T (p.His74Tyr) rs1398447748
NM_013382.7(POMT2):c.2228G>T (p.Arg743Met) rs767359121
NM_013382.7(POMT2):c.224G>C (p.Arg75Pro) rs1200964688
NM_013382.7(POMT2):c.2251T>C (p.Ter751Arg) rs1423335226
NM_013382.7(POMT2):c.232G>C (p.Glu78Gln) rs151103906
NM_013382.7(POMT2):c.239C>T (p.Pro80Leu) rs1195398546
NM_013382.7(POMT2):c.242A>C (p.His81Pro) rs746662519
NM_013382.7(POMT2):c.242A>G (p.His81Arg) rs746662519
NM_013382.7(POMT2):c.248+5G>A
NM_013382.7(POMT2):c.260C>G (p.Thr87Ser)
NM_013382.7(POMT2):c.278G>A (p.Gly93Glu) rs1891452198
NM_013382.7(POMT2):c.292A>C (p.Asn98His)
NM_013382.7(POMT2):c.322C>T (p.Pro108Ser) rs1555355402
NM_013382.7(POMT2):c.329G>A (p.Gly110Glu) rs1891447838
NM_013382.7(POMT2):c.332A>G (p.Lys111Arg)
NM_013382.7(POMT2):c.334-3C>A rs1566658848
NM_013382.7(POMT2):c.344G>C (p.Gly115Ala) rs1594800236
NM_013382.7(POMT2):c.346C>T (p.Leu116Phe) rs1594800231
NM_013382.7(POMT2):c.35C>T (p.Ser12Phe) rs1891855792
NM_013382.7(POMT2):c.389A>G (p.Gln130Arg) rs758643051
NM_013382.7(POMT2):c.406T>C (p.Tyr136His) rs1891230114
NM_013382.7(POMT2):c.416A>G (p.His139Arg) rs1594800188
NM_013382.7(POMT2):c.46C>T (p.Pro16Ser) rs747944127
NM_013382.7(POMT2):c.475G>T (p.Ala159Ser)
NM_013382.7(POMT2):c.50G>A (p.Arg17Gln) rs753326186
NM_013382.7(POMT2):c.521T>C (p.Leu174Pro) rs1891164358
NM_013382.7(POMT2):c.530C>T (p.Ala177Val)
NM_013382.7(POMT2):c.533C>A (p.Ala178Asp)
NM_013382.7(POMT2):c.547+5G>A rs773914478
NM_013382.7(POMT2):c.548A>G (p.Asp183Gly) rs1891099770
NM_013382.7(POMT2):c.559C>T (p.Leu187Phe) rs398124265
NM_013382.7(POMT2):c.583C>G (p.Leu195Val) rs2139487023
NM_013382.7(POMT2):c.586G>A (p.Asp196Asn) rs1200584567
NM_013382.7(POMT2):c.587A>T (p.Asp196Val) rs745591622
NM_013382.7(POMT2):c.58C>T (p.Arg20Cys) rs750127630
NM_013382.7(POMT2):c.620T>C (p.Met207Thr) rs1326409250
NM_013382.7(POMT2):c.636G>C (p.Lys212Asn) rs368906346
NM_013382.7(POMT2):c.642C>A (p.Asn214Lys) rs1594797659
NM_013382.7(POMT2):c.655A>G (p.Arg219Gly)
NM_013382.7(POMT2):c.657-3C>T rs2139480952
NM_013382.7(POMT2):c.658C>T (p.Pro220Ser) rs771201662
NM_013382.7(POMT2):c.659C>T (p.Pro220Leu) rs1555354184
NM_013382.7(POMT2):c.671C>T (p.Pro224Leu)
NM_013382.7(POMT2):c.68C>G (p.Pro23Arg) rs2139551576
NM_013382.7(POMT2):c.690C>G (p.Ser230Arg)
NM_013382.7(POMT2):c.745A>G (p.Ile249Val) rs1337866102
NM_013382.7(POMT2):c.74C>T (p.Ala25Val)
NM_013382.7(POMT2):c.758T>G (p.Val253Gly) rs760828168
NM_013382.7(POMT2):c.763C>G (p.Leu255Val) rs1048633441
NM_013382.7(POMT2):c.767A>T (p.Asn256Ile) rs1891021273
NM_013382.7(POMT2):c.773T>C (p.Ile258Thr)
NM_013382.7(POMT2):c.780C>A (p.Asp260Glu)
NM_013382.7(POMT2):c.781C>T (p.Leu261Phe)
NM_013382.7(POMT2):c.795C>G (p.Phe265Leu) rs765276419
NM_013382.7(POMT2):c.7C>G (p.Pro3Ala) rs1342953034
NM_013382.7(POMT2):c.827G>A (p.Gly276Glu) rs1890947139
NM_013382.7(POMT2):c.836T>A (p.Leu279Gln) rs1890946815
NM_013382.7(POMT2):c.844C>G (p.Arg282Gly)
NM_013382.7(POMT2):c.855C>G (p.Cys285Trp)
NM_013382.7(POMT2):c.85G>A (p.Ala29Thr)
NM_013382.7(POMT2):c.85G>T (p.Ala29Ser)
NM_013382.7(POMT2):c.866T>G (p.Leu289Arg) rs2139473885
NM_013382.7(POMT2):c.874G>C (p.Ala292Pro) rs1312138776
NM_013382.7(POMT2):c.884C>G (p.Thr295Arg) rs794727871
NM_013382.7(POMT2):c.884C>T (p.Thr295Ile) rs794727871
NM_013382.7(POMT2):c.895G>A (p.Ala299Thr)
NM_013382.7(POMT2):c.917G>A (p.Ser306Asn)
NM_013382.7(POMT2):c.923+5A>G
NM_013382.7(POMT2):c.929C>T (p.Pro310Leu)
NM_013382.7(POMT2):c.937G>A (p.Gly313Ser)
NM_013382.7(POMT2):c.957C>G (p.Phe319Leu)
NM_013382.7(POMT2):c.970T>C (p.Ser324Pro)
NM_013382.7(POMT2):c.985C>T (p.His329Tyr) rs2139470461
NM_013382.7(POMT2):c.989A>G (p.Asn330Ser)
NM_013382.7(POMT2):c.997A>G (p.Ile333Val) rs1890917117

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