ClinVar Miner

List of variants reported as uncertain significance for Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 276
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HGVS dbSNP gnomAD frequency
NM_001077365.2(POMT1):c.855+6T>C rs200692465 0.00031
NM_001077365.2(POMT1):c.1598C>T (p.Ala533Val) rs199682341 0.00024
NM_001077365.2(POMT1):c.629C>T (p.Thr210Met) rs377037072 0.00023
NM_001077365.2(POMT1):c.1150G>A (p.Gly384Ser) rs146234177 0.00021
NM_001077365.2(POMT1):c.1439A>G (p.Tyr480Cys) rs145464516 0.00021
NM_001077365.2(POMT1):c.789G>C (p.Leu263Phe) rs201073763 0.00021
NM_001077365.2(POMT1):c.1727T>C (p.Val576Ala) rs144338642 0.00016
NM_001077365.2(POMT1):c.1117G>C (p.Val373Leu) rs200508760 0.00015
NM_001077365.2(POMT1):c.928G>A (p.Val310Ile) rs190112934 0.00014
NM_001077365.2(POMT1):c.698A>G (p.Asn233Ser) rs139774354 0.00013
NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln) rs202140413 0.00011
NM_001077365.2(POMT1):c.281-5T>C rs367743923 0.00011
NM_001077365.2(POMT1):c.875C>G (p.Thr292Ser) rs376471064 0.00011
NM_001077365.2(POMT1):c.1252G>A (p.Ala418Thr) rs142057517 0.00010
NM_001077365.2(POMT1):c.803G>A (p.Arg268His) rs369644530 0.00009
NM_001077365.2(POMT1):c.1838G>A (p.Arg613His) rs147601415 0.00008
NM_001077365.2(POMT1):c.1451C>T (p.Thr484Met) rs201220016 0.00007
NM_001077365.2(POMT1):c.367G>T (p.Val123Leu) rs1424629668 0.00007
NM_001077365.2(POMT1):c.986+5G>A rs370096853 0.00007
NM_001077365.2(POMT1):c.1163G>A (p.Arg388His) rs138640226 0.00006
NM_001077365.2(POMT1):c.1253C>T (p.Ala418Val) rs369651101 0.00006
NM_001077365.2(POMT1):c.197C>T (p.Pro66Leu) rs757903559 0.00006
NM_001077365.2(POMT1):c.2059G>A (p.Ala687Thr) rs535544133 0.00006
NM_001077365.2(POMT1):c.332C>T (p.Ala111Val) rs371531181 0.00006
NM_001077365.2(POMT1):c.847A>C (p.Ser283Arg) rs747506380 0.00006
NM_001077365.2(POMT1):c.1444G>A (p.Gly482Arg) rs372354077 0.00005
NM_001077365.2(POMT1):c.1565C>T (p.Ala522Val) rs374402055 0.00005
NM_001077365.2(POMT1):c.1823A>G (p.Gln608Arg) rs145021255 0.00005
NM_001077365.2(POMT1):c.389A>C (p.His130Pro) rs752880907 0.00005
NM_001077365.2(POMT1):c.425T>C (p.Ile142Thr) rs746950128 0.00005
NM_001077365.2(POMT1):c.868C>T (p.Arg290Trp) rs886042627 0.00005
NM_001077365.2(POMT1):c.1417G>A (p.Gly473Arg) rs376882399 0.00004
NM_001077365.2(POMT1):c.1485G>A (p.Ala495=) rs142211950 0.00004
NM_001077365.2(POMT1):c.1511G>A (p.Arg504Gln) rs370705614 0.00004
NM_001077365.2(POMT1):c.1795C>T (p.Arg599Trp) rs150899645 0.00004
NM_001077365.2(POMT1):c.1990G>A (p.Asp664Asn) rs145635821 0.00004
NM_001077365.2(POMT1):c.2132C>T (p.Ala711Val) rs769694503 0.00004
NM_001077365.2(POMT1):c.2167C>T (p.Arg723Ter) rs202202445 0.00004
NM_001077365.2(POMT1):c.424A>T (p.Ile142Phe) rs141833028 0.00004
NM_001077365.2(POMT1):c.620G>A (p.Gly207Asp) rs765733801 0.00004
NM_001077365.2(POMT1):c.1052A>G (p.Asn351Ser) rs756531223 0.00003
NM_001077365.2(POMT1):c.1084C>A (p.His362Asn) rs141229412 0.00003
NM_001077365.2(POMT1):c.1366-11G>A rs1157478556 0.00003
NM_001077365.2(POMT1):c.202T>C (p.Phe68Leu) rs138433752 0.00003
NM_001077365.2(POMT1):c.2032G>A (p.Ala678Thr) rs747903773 0.00003
NM_001077365.2(POMT1):c.2083C>T (p.Arg695Cys) rs200179598 0.00003
NM_001077365.2(POMT1):c.328C>T (p.Leu110Phe) rs1338443127 0.00003
NM_001077365.2(POMT1):c.634G>A (p.Val212Met) rs746119386 0.00003
NM_001077365.2(POMT1):c.699+72T>C rs200780140 0.00003
NM_001077365.2(POMT1):c.757G>A (p.Val253Ile) rs772590277 0.00003
NM_001077365.2(POMT1):c.1109C>T (p.Pro370Leu) rs376258733 0.00002
NM_001077365.2(POMT1):c.1127G>A (p.Gly376Glu) rs761293717 0.00002
NM_001077365.2(POMT1):c.1330C>T (p.Arg444Cys) rs752384050 0.00002
NM_001077365.2(POMT1):c.1432C>T (p.Arg478Trp) rs763756593 0.00002
NM_001077365.2(POMT1):c.1510C>T (p.Arg504Trp) rs151183697 0.00002
NM_001077365.2(POMT1):c.1627T>C (p.Tyr543His) rs1192384406 0.00002
NM_001077365.2(POMT1):c.1698+6C>T rs180847856 0.00002
NM_001077365.2(POMT1):c.1729A>G (p.Ile577Val) rs749978093 0.00002
NM_001077365.2(POMT1):c.1739C>T (p.Ser580Leu) rs755804404 0.00002
NM_001077365.2(POMT1):c.1763A>G (p.Tyr588Cys) rs772131719 0.00002
NM_001077365.2(POMT1):c.1828G>A (p.Ala610Thr) rs773190071 0.00002
NM_001077365.2(POMT1):c.2027T>C (p.Phe676Ser) rs1201402718 0.00002
NM_001077365.2(POMT1):c.2084G>A (p.Arg695His) rs373402995 0.00002
NM_001077365.2(POMT1):c.2114C>T (p.Ser705Leu) rs747343582 0.00002
NM_001077365.2(POMT1):c.247G>A (p.Asp83Asn) rs530211718 0.00002
NM_001077365.2(POMT1):c.401T>C (p.Met134Thr) rs780170650 0.00002
NM_001077365.2(POMT1):c.559T>C (p.Trp187Arg) rs919881583 0.00002
NM_001077365.2(POMT1):c.640G>A (p.Val214Met) rs778740383 0.00002
NM_001077365.2(POMT1):c.699+14T>A rs370038491 0.00002
NM_001077365.2(POMT1):c.699+27G>A rs374516244 0.00002
NM_001077365.2(POMT1):c.817G>A (p.Asp273Asn) rs754611085 0.00002
NM_001077365.2(POMT1):c.1036C>T (p.Pro346Ser) rs1353274622 0.00001
NM_001077365.2(POMT1):c.1063A>G (p.Ile355Val) rs749853448 0.00001
NM_001077365.2(POMT1):c.1074T>A (p.Asp358Glu) rs765263668 0.00001
NM_001077365.2(POMT1):c.1129G>A (p.Asp377Asn) rs886044066 0.00001
NM_001077365.2(POMT1):c.1193C>T (p.Pro398Leu) rs776388419 0.00001
NM_001077365.2(POMT1):c.1331G>A (p.Arg444His) rs758736387 0.00001
NM_001077365.2(POMT1):c.1354G>A (p.Ala452Thr) rs150702948 0.00001
NM_001077365.2(POMT1):c.1357G>A (p.Val453Ile) rs1008021925 0.00001
NM_001077365.2(POMT1):c.1414G>A (p.Val472Ile) rs943420374 0.00001
NM_001077365.2(POMT1):c.1433G>A (p.Arg478Gln) rs1386572159 0.00001
NM_001077365.2(POMT1):c.1462G>A (p.Val488Met) rs748365119 0.00001
NM_001077365.2(POMT1):c.1480G>A (p.Gly494Ser) rs200204923 0.00001
NM_001077365.2(POMT1):c.1484C>T (p.Ala495Val) rs761439623 0.00001
NM_001077365.2(POMT1):c.1490_1498del (p.Gln497_Gln499del) rs763262424 0.00001
NM_001077365.2(POMT1):c.1505G>A (p.Arg502Gln) rs1174599967 0.00001
NM_001077365.2(POMT1):c.1548G>C (p.Arg516Ser) rs1471379936 0.00001
NM_001077365.2(POMT1):c.1574C>T (p.Ser525Leu) rs1018748368 0.00001
NM_001077365.2(POMT1):c.1616C>T (p.Ser539Leu) rs754907726 0.00001
NM_001077365.2(POMT1):c.1765G>A (p.Ala589Thr) rs747138675 0.00001
NM_001077365.2(POMT1):c.1796G>A (p.Arg599Gln) rs367709136 0.00001
NM_001077365.2(POMT1):c.1825+6T>C rs1366898427 0.00001
NM_001077365.2(POMT1):c.1837C>T (p.Arg613Cys) rs759135168 0.00001
NM_001077365.2(POMT1):c.1867G>A (p.Gly623Ser) rs756303645 0.00001
NM_001077365.2(POMT1):c.2003+4C>T rs766635497 0.00001
NM_001077365.2(POMT1):c.2068G>A (p.Val690Met) rs150209587 0.00001
NM_001077365.2(POMT1):c.2078C>T (p.Thr693Met) rs767241035 0.00001
NM_001077365.2(POMT1):c.2096A>G (p.Tyr699Cys) rs754444374 0.00001
NM_001077365.2(POMT1):c.2123A>T (p.Glu708Val) rs975505270 0.00001
NM_001077365.2(POMT1):c.301G>C (p.Val101Leu) rs199552424 0.00001
NM_001077365.2(POMT1):c.499G>A (p.Val167Met) rs757875244 0.00001
NM_001077365.2(POMT1):c.516G>T (p.Lys172Asn) rs1439661209 0.00001
NM_001077365.2(POMT1):c.52A>C (p.Ser18Arg) rs779386306 0.00001
NM_001077365.2(POMT1):c.539+3A>G rs780457748 0.00001
NM_001077365.2(POMT1):c.572C>T (p.Thr191Ile) rs1344992449 0.00001
NM_001077365.2(POMT1):c.614A>G (p.Tyr205Cys) rs1312643563 0.00001
NM_001077365.2(POMT1):c.650T>G (p.Val217Gly) rs1364769689 0.00001
NM_001077365.2(POMT1):c.697_699del (p.Asn233del) rs761863400 0.00001
NM_001077365.2(POMT1):c.699+32C>T rs201225383 0.00001
NM_001077365.2(POMT1):c.700G>A (p.Val234Ile) rs755248350 0.00001
NM_001077365.2(POMT1):c.721C>G (p.Leu241Val) rs374335795 0.00001
NM_001077365.2(POMT1):c.724G>A (p.Ala242Thr) rs779771679 0.00001
NM_001077365.2(POMT1):c.86G>T (p.Ser29Ile) rs771234098 0.00001
NM_001077365.2(POMT1):c.908C>T (p.Ser303Phe) rs1415622281 0.00001
NM_001077365.2(POMT1):c.917C>T (p.Thr306Ile) rs1377535146 0.00001
NM_001077365.2(POMT1):c.934G>A (p.Gly312Arg) rs1428763564 0.00001
NC_000009.11:g.(?_134395447)_(134395600_?)dup
NC_000009.12:g.(?_130664644)_(131523116_?)dup
NM_001077365.2(POMT1):c.1031G>A (p.Cys344Tyr)
NM_001077365.2(POMT1):c.1076C>T (p.Pro359Leu) rs1292313849
NM_001077365.2(POMT1):c.1083-9_1083-8del rs781619064
NM_001077365.2(POMT1):c.1100G>T (p.Ser367Ile)
NM_001077365.2(POMT1):c.1105C>T (p.Pro369Ser) rs2131707245
NM_001077365.2(POMT1):c.1125C>G (p.His375Gln) rs35242383
NM_001077365.2(POMT1):c.1162C>T (p.Arg388Cys) rs748087053
NM_001077365.2(POMT1):c.116C>A (p.Ala39Asp) rs2131555907
NM_001077365.2(POMT1):c.116C>G (p.Ala39Gly)
NM_001077365.2(POMT1):c.1175+4_1175+7del rs1588409344
NM_001077365.2(POMT1):c.1176G>C (p.Thr392=) rs1588427953
NM_001077365.2(POMT1):c.1181A>G (p.Asp394Gly) rs2131748341
NM_001077365.2(POMT1):c.1190C>A (p.Ala397Asp) rs1564364465
NM_001077365.2(POMT1):c.1202C>T (p.Pro401Leu)
NM_001077365.2(POMT1):c.120G>A (p.Val40=)
NM_001077365.2(POMT1):c.122+5G>A rs376753193
NM_001077365.2(POMT1):c.1229T>C (p.Ile410Thr) rs1554778053
NM_001077365.2(POMT1):c.1248G>T (p.Met416Ile)
NM_001077365.2(POMT1):c.1252G>T (p.Ala418Ser) rs142057517
NM_001077365.2(POMT1):c.1256_1257insACA (p.Gln419dup) rs773942978
NM_001077365.2(POMT1):c.1272G>T (p.Leu424=)
NM_001077365.2(POMT1):c.1273-11del
NM_001077365.2(POMT1):c.1273-17G>C
NM_001077365.2(POMT1):c.1318C>T (p.Leu440Phe)
NM_001077365.2(POMT1):c.1335T>G (p.Phe445Leu) rs2131848570
NM_001077365.2(POMT1):c.1346A>G (p.Asn449Ser)
NM_001077365.2(POMT1):c.1348A>T (p.Thr450Ser) rs2131848872
NM_001077365.2(POMT1):c.1349C>A (p.Thr450Asn) rs757785909
NM_001077365.2(POMT1):c.1352C>T (p.Ser451Phe) rs890463115
NM_001077365.2(POMT1):c.1371C>G (p.Ser457Arg) rs746412899
NM_001077365.2(POMT1):c.1384C>T (p.Pro462Ser) rs1347678628
NM_001077365.2(POMT1):c.1390T>G (p.Trp464Gly) rs376126988
NM_001077365.2(POMT1):c.1399C>T (p.Arg467Trp) rs770668718
NM_001077365.2(POMT1):c.139T>G (p.Tyr47Asp) rs1945758260
NM_001077365.2(POMT1):c.1426C>G (p.Leu476Val) rs1949310812
NM_001077365.2(POMT1):c.1436G>C (p.Gly479Ala) rs1949313840
NM_001077365.2(POMT1):c.1441C>A (p.His481Asn)
NM_001077365.2(POMT1):c.1465GAG[1] (p.Glu490del) rs1949322859
NM_001077365.2(POMT1):c.1469A>C (p.Glu490Ala) rs2131857011
NM_001077365.2(POMT1):c.1482C>T (p.Gly494=)
NM_001077365.2(POMT1):c.1484C>A (p.Ala495Glu) rs761439623
NM_001077365.2(POMT1):c.1503_1508dup (p.500_501RE[4]) rs727502853
NM_001077365.2(POMT1):c.1507G>A (p.Glu503Lys) rs2131866665
NM_001077365.2(POMT1):c.151A>T (p.Ile51Phe) rs886044651
NM_001077365.2(POMT1):c.1521C>G (p.His507Gln)
NM_001077365.2(POMT1):c.1535T>A (p.Val512Glu)
NM_001077365.2(POMT1):c.1538A>C (p.Asp513Ala)
NM_001077365.2(POMT1):c.1540G>A (p.Val514Ile) rs984288781
NM_001077365.2(POMT1):c.154T>C (p.Ser52Pro) rs1554771665
NM_001077365.2(POMT1):c.1555A>G (p.Ser519Gly) rs1564381465
NM_001077365.2(POMT1):c.1570T>A (p.Phe524Ile)
NM_001077365.2(POMT1):c.1576G>A (p.Glu526Lys) rs1949475355
NM_001077365.2(POMT1):c.1585T>C (p.Trp529Arg) rs1949610411
NM_001077365.2(POMT1):c.1608T>G (p.Ser536Arg) rs1588482215
NM_001077365.2(POMT1):c.1634C>G (p.Ser545Cys)
NM_001077365.2(POMT1):c.1637G>A (p.Ser546Asn)
NM_001077365.2(POMT1):c.1638C>G (p.Ser546Arg) rs2131881044
NM_001077365.2(POMT1):c.1658T>C (p.Leu553Pro) rs777490066
NM_001077365.2(POMT1):c.1664C>T (p.Thr555Ile)
NM_001077365.2(POMT1):c.1667A>G (p.Asn556Ser)
NM_001077365.2(POMT1):c.1672G>T (p.Ala558Ser)
NM_001077365.2(POMT1):c.1680G>C (p.Trp560Cys) rs119462984
NM_001077365.2(POMT1):c.1698+2dup
NM_001077365.2(POMT1):c.1699-11T>G
NM_001077365.2(POMT1):c.1705A>C (p.Ile569Leu) rs1588493803
NM_001077365.2(POMT1):c.1715T>G (p.Leu572Arg)
NM_001077365.2(POMT1):c.1735G>C (p.Val579Leu) rs1588494128
NM_001077365.2(POMT1):c.1745G>C (p.Ser582Thr)
NM_001077365.2(POMT1):c.1768C>G (p.Leu590Val)
NM_001077365.2(POMT1):c.1778T>C (p.Leu593Ser)
NM_001077365.2(POMT1):c.178T>C (p.Phe60Leu) rs1564332130
NM_001077365.2(POMT1):c.1799G>T (p.Arg600Leu) rs753485021
NM_001077365.2(POMT1):c.1825+3_1825+16del
NM_001077365.2(POMT1):c.1825+4A>C
NM_001077365.2(POMT1):c.1838G>T (p.Arg613Leu)
NM_001077365.2(POMT1):c.183G>A (p.Leu61=) rs1945769344
NM_001077365.2(POMT1):c.1867G>C (p.Gly623Arg)
NM_001077365.2(POMT1):c.1907A>G (p.Glu636Gly) rs1322926242
NM_001077365.2(POMT1):c.1937C>T (p.Pro646Leu) rs2131922893
NM_001077365.2(POMT1):c.1979A>G (p.Gln660Arg) rs775109154
NM_001077365.2(POMT1):c.1985T>A (p.Ile662Asn) rs2131923569
NM_001077365.2(POMT1):c.2000G>A (p.Cys667Tyr) rs1219770866
NM_001077365.2(POMT1):c.2002A>C (p.Arg668=) rs985023011
NM_001077365.2(POMT1):c.2003+12_2003+13delinsAT
NM_001077365.2(POMT1):c.2015A>G (p.Gln672Arg)
NM_001077365.2(POMT1):c.2022C>G (p.Ser674Arg)
NM_001077365.2(POMT1):c.2050T>C (p.Tyr684His) rs113633543
NM_001077365.2(POMT1):c.2053T>A (p.Ser685Thr) rs1588513928
NM_001077365.2(POMT1):c.205G>A (p.Gly69Ser) rs1945776583
NM_001077365.2(POMT1):c.2067C>A (p.His689Gln) rs141895982
NM_001077365.2(POMT1):c.2068G>T (p.Val690Leu)
NM_001077365.2(POMT1):c.2089C>T (p.Leu697Phe)
NM_001077365.2(POMT1):c.2090T>A (p.Leu697His) rs753872714
NM_001077365.2(POMT1):c.2093C>T (p.Thr698Ile)
NM_001077365.2(POMT1):c.2098G>T (p.Gly700Trp) rs912556508
NM_001077365.2(POMT1):c.2101G>T (p.Asp701Tyr) rs771877812
NM_001077365.2(POMT1):c.2110C>T (p.Leu704Phe) rs2131946967
NM_001077365.2(POMT1):c.2138G>A (p.Arg713His) rs938573554
NM_001077365.2(POMT1):c.2140T>C (p.Trp714Arg)
NM_001077365.2(POMT1):c.2162T>G (p.Leu721Trp)
NM_001077365.2(POMT1):c.2178G>C (p.Ter726Tyr) rs147143094
NM_001077365.2(POMT1):c.221C>A (p.Ala74Asp)
NM_001077365.2(POMT1):c.23C>T (p.Pro8Leu)
NM_001077365.2(POMT1):c.283T>C (p.Tyr95His)
NM_001077365.2(POMT1):c.295G>A (p.Val99Met) rs1449103987
NM_001077365.2(POMT1):c.342G>T (p.Leu114Phe)
NM_001077365.2(POMT1):c.344C>T (p.Ser115Leu)
NM_001077365.2(POMT1):c.352A>G (p.Met118Val)
NM_001077365.2(POMT1):c.418A>G (p.Met140Val) rs2131607251
NM_001077365.2(POMT1):c.434C>T (p.Ala145Val)
NM_001077365.2(POMT1):c.439A>G (p.Ile147Val)
NM_001077365.2(POMT1):c.459G>A (p.Met153Ile) rs1184495903
NM_001077365.2(POMT1):c.466G>C (p.Glu156Gln)
NM_001077365.2(POMT1):c.499G>C (p.Val167Leu)
NM_001077365.2(POMT1):c.506C>G (p.Ser169Cys)
NM_001077365.2(POMT1):c.520T>A (p.Phe174Ile)
NM_001077365.2(POMT1):c.533A>G (p.Lys178Arg)
NM_001077365.2(POMT1):c.538A>C (p.Ser180Arg) rs770239141
NM_001077365.2(POMT1):c.540-3C>T
NM_001077365.2(POMT1):c.558G>T (p.Trp186Cys)
NM_001077365.2(POMT1):c.587C>T (p.Ala196Val)
NM_001077365.2(POMT1):c.592T>A (p.Ser198Thr) rs767056835
NM_001077365.2(POMT1):c.59T>C (p.Val20Ala)
NM_001077365.2(POMT1):c.600_601delinsGA (p.Val201Met) rs2131641762
NM_001077365.2(POMT1):c.605+4A>G
NM_001077365.2(POMT1):c.622G>T (p.Val208Leu)
NM_001077365.2(POMT1):c.62C>T (p.Ala21Val)
NM_001077365.2(POMT1):c.640G>T (p.Val214Leu)
NM_001077365.2(POMT1):c.641T>C (p.Val214Ala) rs919829316
NM_001077365.2(POMT1):c.687G>C (p.Gln229His) rs1946741782
NM_001077365.2(POMT1):c.689C>G (p.Thr230Ser)
NM_001077365.2(POMT1):c.699+14T>G rs370038491
NM_001077365.2(POMT1):c.699+26T>G rs2131645042
NM_001077365.2(POMT1):c.699+40A>G
NM_001077365.2(POMT1):c.699+49A>T
NM_001077365.2(POMT1):c.699+5G>T
NM_001077365.2(POMT1):c.699+64G>C rs746958804
NM_001077365.2(POMT1):c.699+66G>T
NM_001077365.2(POMT1):c.699+6T>G
NM_001077365.2(POMT1):c.724G>T (p.Ala242Ser) rs779771679
NM_001077365.2(POMT1):c.725C>T (p.Ala242Val) rs1554774466
NM_001077365.2(POMT1):c.743T>G (p.Leu248Arg) rs1946833127
NM_001077365.2(POMT1):c.748A>G (p.Ile250Val)
NM_001077365.2(POMT1):c.75G>T (p.Met25Ile)
NM_001077365.2(POMT1):c.761T>G (p.Leu254Arg)
NM_001077365.2(POMT1):c.781G>A (p.Val261Ile) rs759734493
NM_001077365.2(POMT1):c.797_808del (p.Val266_Ser269del)
NM_001077365.2(POMT1):c.852A>T (p.Leu284Phe)
NM_001077365.2(POMT1):c.859G>A (p.Gly287Arg)
NM_001077365.2(POMT1):c.860G>A (p.Gly287Glu) rs1947076473
NM_001077365.2(POMT1):c.879G>T (p.Gln293His) rs1947080431
NM_001077365.2(POMT1):c.880G>A (p.Gly294Ser) rs145395372
NM_001077365.2(POMT1):c.881G>A (p.Gly294Asp) rs1947081771
NM_001077365.2(POMT1):c.8G>A (p.Gly3Glu)
NM_001077365.2(POMT1):c.92T>A (p.Leu31Gln) rs2131555430
NM_001077365.2(POMT1):c.962_982del (p.Ser321_Met328delinsLeu) rs2131673494
NM_001077365.2(POMT1):c.982A>C (p.Met328Leu)
NM_001077365.2(POMT1):c.988T>C (p.Tyr330His)

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