ClinVar Miner

List of variants reported as likely benign 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: 419
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HGVS dbSNP gnomAD frequency
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) rs117985576 0.00169
NM_001077365.2(POMT1):c.2168G>A (p.Arg723Gln) rs144051476 0.00153
NM_001077365.2(POMT1):c.1486+14G>A rs142995404 0.00118
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg) rs150367385 0.00114
NM_001077365.2(POMT1):c.986+9A>G rs202095070 0.00077
NM_001077365.2(POMT1):c.2178G>A (p.Ter726=) rs147143094 0.00071
NM_001077365.2(POMT1):c.42C>T (p.Asp14=) rs150937126 0.00050
NM_001077365.2(POMT1):c.2097C>T (p.Tyr699=) rs138902646 0.00026
NM_001077365.2(POMT1):c.1671T>C (p.Ile557=) rs200969468 0.00024
NM_001077365.2(POMT1):c.539+19C>T rs376642449 0.00023
NM_001077365.2(POMT1):c.1614C>T (p.Asp538=) rs141933812 0.00021
NM_001077365.2(POMT1):c.1116T>C (p.Pro372=) rs146945848 0.00020
NM_001077365.2(POMT1):c.1175+15C>T rs200398689 0.00017
NM_001077365.2(POMT1):c.586G>A (p.Ala196Thr) rs199498900 0.00017
NM_001077365.2(POMT1):c.606-15G>C rs201897506 0.00015
NM_001077365.2(POMT1):c.129C>T (p.Asp43=) rs200465419 0.00014
NM_001077365.2(POMT1):c.246C>T (p.Phe82=) rs148887050 0.00014
NM_001077365.2(POMT1):c.1461C>T (p.Asn487=) rs373482514 0.00012
NM_001077365.2(POMT1):c.396C>T (p.Ala132=) rs375288218 0.00012
NM_001077365.2(POMT1):c.568C>T (p.Leu190=) rs752931210 0.00012
NM_001077365.2(POMT1):c.2061G>A (p.Ala687=) rs200916353 0.00011
NM_001077365.2(POMT1):c.921G>T (p.Leu307=) rs371243573 0.00011
NM_001077365.2(POMT1):c.2067C>T (p.His689=) rs141895982 0.00010
NM_001077365.2(POMT1):c.1740G>A (p.Ser580=) rs148758906 0.00009
NM_001077365.2(POMT1):c.1826-17C>T rs377691462 0.00009
NM_001077365.2(POMT1):c.427+12G>A rs372588957 0.00009
NM_001077365.2(POMT1):c.488A>G (p.Asn163Ser) rs182295674 0.00009
NM_001077365.2(POMT1):c.1365+10C>T rs200089530 0.00007
NM_001077365.2(POMT1):c.1448G>A (p.Ser483Asn) rs750937093 0.00007
NM_001077365.2(POMT1):c.1746C>T (p.Ser582=) rs376373313 0.00007
NM_001077365.2(POMT1):c.1251C>T (p.Pro417=) rs376749638 0.00006
NM_001077365.2(POMT1):c.1486+9G>A rs547775333 0.00006
NM_001077365.2(POMT1):c.1698+7G>A rs367775263 0.00006
NM_001077365.2(POMT1):c.2031C>T (p.Ser677=) rs778418119 0.00006
NM_001077365.2(POMT1):c.30G>A (p.Val10=) rs201533471 0.00006
NM_001077365.2(POMT1):c.1366-6C>T rs781702944 0.00005
NM_001077365.2(POMT1):c.1487-5G>T rs747783069 0.00005
NM_001077365.2(POMT1):c.1825+17C>T rs200195080 0.00005
NM_001077365.2(POMT1):c.1866C>T (p.Ala622=) rs200652115 0.00005
NM_001077365.2(POMT1):c.198G>A (p.Pro66=) rs369877185 0.00005
NM_001077365.2(POMT1):c.1175+13G>A rs777087288 0.00004
NM_001077365.2(POMT1):c.123-13T>G rs773958478 0.00004
NM_001077365.2(POMT1):c.123-6T>C rs201486083 0.00004
NM_001077365.2(POMT1):c.2003+9G>A rs368975092 0.00004
NM_001077365.2(POMT1):c.579A>G (p.Thr193=) rs775408856 0.00004
NM_001077365.2(POMT1):c.699+85C>G rs369000699 0.00004
NM_001077365.2(POMT1):c.111G>C (p.Pro37=) rs761641734 0.00003
NM_001077365.2(POMT1):c.1302C>T (p.Asp434=) rs568246978 0.00003
NM_001077365.2(POMT1):c.1366-12C>T rs757666938 0.00003
NM_001077365.2(POMT1):c.1488C>T (p.Ser496=) rs727503872 0.00003
NM_001077365.2(POMT1):c.1584+10G>A rs377495957 0.00003
NM_001077365.2(POMT1):c.291C>T (p.Ser97=) rs780884926 0.00003
NM_001077365.2(POMT1):c.294C>T (p.Asn98=) rs745810979 0.00003
NM_001077365.2(POMT1):c.600A>G (p.Ala200=) rs755854450 0.00003
NM_001077365.2(POMT1):c.630G>A (p.Thr210=) rs553160213 0.00003
NM_001077365.2(POMT1):c.1176-17C>T rs748114656 0.00002
NM_001077365.2(POMT1):c.123-20G>T rs746071589 0.00002
NM_001077365.2(POMT1):c.1272+17C>T rs544783137 0.00002
NM_001077365.2(POMT1):c.141T>C (p.Tyr47=) rs752941420 0.00002
NM_001077365.2(POMT1):c.1699-19A>G rs761855332 0.00002
NM_001077365.2(POMT1):c.1826-16G>A rs781195768 0.00002
NM_001077365.2(POMT1):c.2064C>T (p.Cys688=) rs1335756801 0.00002
NM_001077365.2(POMT1):c.36G>A (p.Thr12=) rs201262353 0.00002
NM_001077365.2(POMT1):c.408T>G (p.Ala136=) rs748757994 0.00002
NM_001077365.2(POMT1):c.1014C>T (p.His338=) rs886043203 0.00001
NM_001077365.2(POMT1):c.1068A>G (p.Val356=) rs1280401262 0.00001
NM_001077365.2(POMT1):c.1082+19A>G rs1454823245 0.00001
NM_001077365.2(POMT1):c.1101C>T (p.Ser367=) rs771523115 0.00001
NM_001077365.2(POMT1):c.1166C>T (p.Ser389Phe) rs201587241 0.00001
NM_001077365.2(POMT1):c.1167C>T (p.Ser389=) rs1210555820 0.00001
NM_001077365.2(POMT1):c.1281G>A (p.Val427=) rs139720304 0.00001
NM_001077365.2(POMT1):c.1341C>T (p.His447=) rs200731790 0.00001
NM_001077365.2(POMT1):c.1353C>A (p.Ser451=) rs144385159 0.00001
NM_001077365.2(POMT1):c.1371C>T (p.Ser457=) rs746412899 0.00001
NM_001077365.2(POMT1):c.1443C>T (p.His481=) rs139415150 0.00001
NM_001077365.2(POMT1):c.1452G>A (p.Thr484=) rs145164375 0.00001
NM_001077365.2(POMT1):c.1486+11G>A rs755682718 0.00001
NM_001077365.2(POMT1):c.1575G>A (p.Ser525=) rs753468585 0.00001
NM_001077365.2(POMT1):c.1584+9C>T rs1219705170 0.00001
NM_001077365.2(POMT1):c.1617G>A (p.Ser539=) rs778687698 0.00001
NM_001077365.2(POMT1):c.1668T>C (p.Asn556=) rs1445855043 0.00001
NM_001077365.2(POMT1):c.1758C>T (p.Ala586=) rs373374873 0.00001
NM_001077365.2(POMT1):c.1764C>T (p.Tyr588=) rs773343894 0.00001
NM_001077365.2(POMT1):c.1773G>A (p.Leu591=) rs762810201 0.00001
NM_001077365.2(POMT1):c.1893G>A (p.Pro631=) rs749582742 0.00001
NM_001077365.2(POMT1):c.1938C>T (p.Pro646=) rs1481940320 0.00001
NM_001077365.2(POMT1):c.1989C>T (p.Ser663=) rs764451132 0.00001
NM_001077365.2(POMT1):c.1995C>T (p.His665=) rs768108650 0.00001
NM_001077365.2(POMT1):c.2004-19G>A rs757031997 0.00001
NM_001077365.2(POMT1):c.2058C>T (p.Ser686=) rs886043948 0.00001
NM_001077365.2(POMT1):c.2079G>A (p.Thr693=) rs200603905 0.00001
NM_001077365.2(POMT1):c.345G>A (p.Ser115=) rs147212285 0.00001
NM_001077365.2(POMT1):c.426C>T (p.Ile142=) rs771390000 0.00001
NM_001077365.2(POMT1):c.427+11C>T rs765291250 0.00001
NM_001077365.2(POMT1):c.427+8C>T rs201727519 0.00001
NM_001077365.2(POMT1):c.539+13G>T rs749842555 0.00001
NM_001077365.2(POMT1):c.585C>T (p.Val195=) rs764110407 0.00001
NM_001077365.2(POMT1):c.606-9T>C rs760178838 0.00001
NM_001077365.2(POMT1):c.639C>T (p.Leu213=) rs267602149 0.00001
NM_001077365.2(POMT1):c.699+33G>A rs750646014 0.00001
NM_001077365.2(POMT1):c.723C>T (p.Leu241=) rs765290860 0.00001
NM_001077365.2(POMT1):c.753G>A (p.Pro251=) rs748485512 0.00001
NM_001077365.2(POMT1):c.756C>A (p.Val252=) rs1286632929 0.00001
NM_001077365.2(POMT1):c.774C>T (p.Phe258=) rs761217834 0.00001
NM_001077365.2(POMT1):c.780C>T (p.Tyr260=) rs776755041 0.00001
NM_001077365.2(POMT1):c.783C>T (p.Val261=) rs765387571 0.00001
NM_001077365.2(POMT1):c.816C>T (p.His272=) rs191404622 0.00001
NM_001077365.2(POMT1):c.919C>T (p.Leu307=) rs983634068 0.00001
NM_001077365.2(POMT1):c.1020A>G (p.Gln340=)
NM_001077365.2(POMT1):c.1029C>A (p.Thr343=)
NM_001077365.2(POMT1):c.1029C>T (p.Thr343=)
NM_001077365.2(POMT1):c.1044A>G (p.Lys348=)
NM_001077365.2(POMT1):c.105C>A (p.Thr35=)
NM_001077365.2(POMT1):c.1078A>C (p.Arg360=)
NM_001077365.2(POMT1):c.1082+11G>C
NM_001077365.2(POMT1):c.1082+14_1082+33del
NM_001077365.2(POMT1):c.1082+18G>C
NM_001077365.2(POMT1):c.1082+19A>T rs1454823245
NM_001077365.2(POMT1):c.1082+9A>G
NM_001077365.2(POMT1):c.1083-11G>A
NM_001077365.2(POMT1):c.1083-20G>A
NM_001077365.2(POMT1):c.1083-7C>G rs1428085460
NM_001077365.2(POMT1):c.1086C>T (p.His362=)
NM_001077365.2(POMT1):c.1092G>A (p.Leu364=)
NM_001077365.2(POMT1):c.1110G>A (p.Pro370=)
NM_001077365.2(POMT1):c.111G>A (p.Pro37=) rs761641734
NM_001077365.2(POMT1):c.111G>T (p.Pro37=)
NM_001077365.2(POMT1):c.1128G>A (p.Gly376=)
NM_001077365.2(POMT1):c.1146C>T (p.Val382=) rs757429050
NM_001077365.2(POMT1):c.1152C>T (p.Gly384=)
NM_001077365.2(POMT1):c.1175+10C>T rs1292261993
NM_001077365.2(POMT1):c.1175+12C>T rs890396848
NM_001077365.2(POMT1):c.1175+14C>T
NM_001077365.2(POMT1):c.1175+14_1175+16del
NM_001077365.2(POMT1):c.1175+16G>C
NM_001077365.2(POMT1):c.1175+18C>A
NM_001077365.2(POMT1):c.1175+7G>T
NM_001077365.2(POMT1):c.1176-16G>A rs199684856
NM_001077365.2(POMT1):c.1176-16G>C rs199684856
NM_001077365.2(POMT1):c.1176-17C>G
NM_001077365.2(POMT1):c.1176-19C>G
NM_001077365.2(POMT1):c.1194C>A (p.Pro398=) rs371653610
NM_001077365.2(POMT1):c.1194C>G (p.Pro398=) rs371653610
NM_001077365.2(POMT1):c.1194C>T (p.Pro398=)
NM_001077365.2(POMT1):c.1195C>T (p.Leu399=)
NM_001077365.2(POMT1):c.1197G>A (p.Leu399=) rs764535220
NM_001077365.2(POMT1):c.1197G>C (p.Leu399=) rs764535220
NM_001077365.2(POMT1):c.1200C>T (p.Ser400=) rs886043851
NM_001077365.2(POMT1):c.1203C>T (p.Pro401=)
NM_001077365.2(POMT1):c.1206T>C (p.His402=)
NM_001077365.2(POMT1):c.122+10A>G
NM_001077365.2(POMT1):c.122+13_122+20dup
NM_001077365.2(POMT1):c.122+14C>T
NM_001077365.2(POMT1):c.122+15T>C
NM_001077365.2(POMT1):c.122+7T>C
NM_001077365.2(POMT1):c.1221C>T (p.Ser407=) rs1172989588
NM_001077365.2(POMT1):c.1224C>T (p.Cys408=) rs1392371349
NM_001077365.2(POMT1):c.123-11T>G
NM_001077365.2(POMT1):c.123-14G>T
NM_001077365.2(POMT1):c.123-17G>A
NM_001077365.2(POMT1):c.123-18T>G
NM_001077365.2(POMT1):c.123-18del rs1564331634
NM_001077365.2(POMT1):c.123-19T>C
NM_001077365.2(POMT1):c.123-20GTT[2] rs769392387
NM_001077365.2(POMT1):c.123-4C>T
NM_001077365.2(POMT1):c.123-5T>C
NM_001077365.2(POMT1):c.123-7T>C
NM_001077365.2(POMT1):c.1251C>A (p.Pro417=) rs376749638
NM_001077365.2(POMT1):c.1263C>T (p.Leu421=)
NM_001077365.2(POMT1):c.1272+10G>A
NM_001077365.2(POMT1):c.1272+11C>A
NM_001077365.2(POMT1):c.1272+14C>A
NM_001077365.2(POMT1):c.1272+14C>T rs775878866
NM_001077365.2(POMT1):c.1272+15G>A
NM_001077365.2(POMT1):c.1272+7A>G
NM_001077365.2(POMT1):c.1272+8A>G rs1948118898
NM_001077365.2(POMT1):c.1273-10del rs2131847588
NM_001077365.2(POMT1):c.1273-15G>A
NM_001077365.2(POMT1):c.1273-18T>C
NM_001077365.2(POMT1):c.1273-9T>C
NM_001077365.2(POMT1):c.1293T>C (p.Ser431=)
NM_001077365.2(POMT1):c.1296C>T (p.Asp432=)
NM_001077365.2(POMT1):c.1323A>C (p.Ser441=) rs753403833
NM_001077365.2(POMT1):c.1326G>A (p.Glu442=) rs764970702
NM_001077365.2(POMT1):c.1344G>A (p.Val448=)
NM_001077365.2(POMT1):c.1347C>T (p.Asn449=)
NM_001077365.2(POMT1):c.1353C>T (p.Ser451=)
NM_001077365.2(POMT1):c.1365+11T>C
NM_001077365.2(POMT1):c.1365+14C>T
NM_001077365.2(POMT1):c.1365+16G>A
NM_001077365.2(POMT1):c.1365+9A>G rs2131849509
NM_001077365.2(POMT1):c.1366-12_1366-11dup
NM_001077365.2(POMT1):c.1366-20C>T
NM_001077365.2(POMT1):c.1380C>T (p.His460=)
NM_001077365.2(POMT1):c.138T>C (p.Tyr46=)
NM_001077365.2(POMT1):c.1413C>A (p.Ile471=) rs769288290
NM_001077365.2(POMT1):c.1413C>T (p.Ile471=)
NM_001077365.2(POMT1):c.1419G>A (p.Gly473=)
NM_001077365.2(POMT1):c.1470G>A (p.Glu490=)
NM_001077365.2(POMT1):c.1473C>T (p.His491=) rs770742841
NM_001077365.2(POMT1):c.1474C>A (p.Arg492=)
NM_001077365.2(POMT1):c.1486+11G>T rs755682718
NM_001077365.2(POMT1):c.1486+12G>C
NM_001077365.2(POMT1):c.1486+13C>T
NM_001077365.2(POMT1):c.1486+18C>T
NM_001077365.2(POMT1):c.1486+20T>G
NM_001077365.2(POMT1):c.1486+8C>T
NM_001077365.2(POMT1):c.1486+9G>T
NM_001077365.2(POMT1):c.1487-10G>A
NM_001077365.2(POMT1):c.1487-18C>T
NM_001077365.2(POMT1):c.1497G>A (p.Gln499=)
NM_001077365.2(POMT1):c.1510C>A (p.Arg504=)
NM_001077365.2(POMT1):c.1530G>A (p.Ala510=)
NM_001077365.2(POMT1):c.1536G>A (p.Val512=) rs1949458706
NM_001077365.2(POMT1):c.1539C>T (p.Asp513=)
NM_001077365.2(POMT1):c.1551C>T (p.Asn517=)
NM_001077365.2(POMT1):c.1560C>T (p.Phe520=) rs1588476051
NM_001077365.2(POMT1):c.1566G>A (p.Ala522=)
NM_001077365.2(POMT1):c.1581G>A (p.Leu527=) rs1378023866
NM_001077365.2(POMT1):c.1584+13C>T rs2131869164
NM_001077365.2(POMT1):c.1584+14A>G
NM_001077365.2(POMT1):c.1584+14del
NM_001077365.2(POMT1):c.1584+16G>T
NM_001077365.2(POMT1):c.1584+18G>A
NM_001077365.2(POMT1):c.1584+20A>G
NM_001077365.2(POMT1):c.1585-16C>T
NM_001077365.2(POMT1):c.1585-16CT[3]
NM_001077365.2(POMT1):c.1585-18G>C
NM_001077365.2(POMT1):c.1585-19G>A
NM_001077365.2(POMT1):c.1585-20A>C
NM_001077365.2(POMT1):c.1599G>A (p.Ala533=)
NM_001077365.2(POMT1):c.1602G>C (p.Leu534=)
NM_001077365.2(POMT1):c.1605A>G (p.Arg535=)
NM_001077365.2(POMT1):c.1611T>C (p.Asp537=)
NM_001077365.2(POMT1):c.1629C>T (p.Tyr543=)
NM_001077365.2(POMT1):c.162C>T (p.Tyr54=)
NM_001077365.2(POMT1):c.1641A>C (p.Pro547=) rs932156935
NM_001077365.2(POMT1):c.1644G>A (p.Leu548=) rs2131881178
NM_001077365.2(POMT1):c.1647G>A (p.Glu549=) rs757830349
NM_001077365.2(POMT1):c.1683G>A (p.Leu561=)
NM_001077365.2(POMT1):c.168A>G (p.Lys56=)
NM_001077365.2(POMT1):c.1695C>A (p.Thr565=)
NM_001077365.2(POMT1):c.1698+10C>T
NM_001077365.2(POMT1):c.1698+11G>A
NM_001077365.2(POMT1):c.1698+17G>A
NM_001077365.2(POMT1):c.1698+7G>T
NM_001077365.2(POMT1):c.1699-10del
NM_001077365.2(POMT1):c.1699-11T>C
NM_001077365.2(POMT1):c.1699-12A>G
NM_001077365.2(POMT1):c.1699-20C>G
NM_001077365.2(POMT1):c.1699-20C>T
NM_001077365.2(POMT1):c.1699-7C>T rs764871902
NM_001077365.2(POMT1):c.171A>G (p.Gln57=)
NM_001077365.2(POMT1):c.1731C>A (p.Ile577=)
NM_001077365.2(POMT1):c.1740G>C (p.Ser580=)
NM_001077365.2(POMT1):c.1743C>A (p.Gly581=)
NM_001077365.2(POMT1):c.1749C>G (p.Leu583=) rs755379319
NM_001077365.2(POMT1):c.1749C>T (p.Leu583=) rs755379319
NM_001077365.2(POMT1):c.1767C>G (p.Ala589=)
NM_001077365.2(POMT1):c.1770G>A (p.Leu590=)
NM_001077365.2(POMT1):c.1786C>T (p.Leu596=)
NM_001077365.2(POMT1):c.1791C>G (p.Leu597=)
NM_001077365.2(POMT1):c.1797G>A (p.Arg599=) rs2131904951
NM_001077365.2(POMT1):c.1799G>A (p.Arg600Gln) rs753485021
NM_001077365.2(POMT1):c.1806T>C (p.Asn602=) rs2131905242
NM_001077365.2(POMT1):c.1825+11C>G
NM_001077365.2(POMT1):c.1825+12T>C
NM_001077365.2(POMT1):c.1825+18A>G
NM_001077365.2(POMT1):c.1825+22_1825+48del
NM_001077365.2(POMT1):c.1825+8C>T
NM_001077365.2(POMT1):c.1825+9C>A
NM_001077365.2(POMT1):c.1826-10T>C
NM_001077365.2(POMT1):c.1826-13C>A
NM_001077365.2(POMT1):c.1826-4A>G
NM_001077365.2(POMT1):c.1826-7C>T
NM_001077365.2(POMT1):c.1826-7_1826-6delinsAA rs1064793740
NM_001077365.2(POMT1):c.1827T>C (p.Asp609=)
NM_001077365.2(POMT1):c.1830C>T (p.Ala610=)
NM_001077365.2(POMT1):c.1848G>C (p.Leu616=) rs370443246
NM_001077365.2(POMT1):c.1857G>A (p.Ala619=)
NM_001077365.2(POMT1):c.1858C>T (p.Leu620=)
NM_001077365.2(POMT1):c.1869T>C (p.Gly623=)
NM_001077365.2(POMT1):c.1890C>T (p.Leu630=) rs1007091999
NM_001077365.2(POMT1):c.1941A>G (p.Ala647=)
NM_001077365.2(POMT1):c.195G>A (p.Gly65=)
NM_001077365.2(POMT1):c.1974C>T (p.Val658=)
NM_001077365.2(POMT1):c.1975C>T (p.Leu659=)
NM_001077365.2(POMT1):c.2003+14G>A
NM_001077365.2(POMT1):c.2003+17G>A
NM_001077365.2(POMT1):c.2003+18A>C
NM_001077365.2(POMT1):c.2003+18A>G
NM_001077365.2(POMT1):c.2003+20A>G
NM_001077365.2(POMT1):c.2003+8G>A
NM_001077365.2(POMT1):c.2004-10A>G
NM_001077365.2(POMT1):c.2004-13C>T
NM_001077365.2(POMT1):c.2004-16G>A rs896269640
NM_001077365.2(POMT1):c.2004-18C>A
NM_001077365.2(POMT1):c.2004-18C>G
NM_001077365.2(POMT1):c.2004-20C>G rs372767898
NM_001077365.2(POMT1):c.2004-4G>A
NM_001077365.2(POMT1):c.2004-5T>G
NM_001077365.2(POMT1):c.2004-8C>T rs1950257826
NM_001077365.2(POMT1):c.2016G>A (p.Gln672=) rs779577551
NM_001077365.2(POMT1):c.2019G>A (p.Arg673=)
NM_001077365.2(POMT1):c.2022C>T (p.Ser674=)
NM_001077365.2(POMT1):c.2028C>T (p.Phe676=)
NM_001077365.2(POMT1):c.2046C>G (p.Ala682=)
NM_001077365.2(POMT1):c.2070G>A (p.Val690=) rs752855537
NM_001077365.2(POMT1):c.2082G>A (p.Leu694=)
NM_001077365.2(POMT1):c.2103C>T (p.Asp701=)
NM_001077365.2(POMT1):c.2115G>C (p.Ser705=)
NM_001077365.2(POMT1):c.2118A>T (p.Pro706=)
NM_001077365.2(POMT1):c.2127C>A (p.Leu709=) rs2131947484
NM_001077365.2(POMT1):c.225G>A (p.Leu75=)
NM_001077365.2(POMT1):c.229+12C>G
NM_001077365.2(POMT1):c.229+12C>T
NM_001077365.2(POMT1):c.229+14G>A rs1945785020
NM_001077365.2(POMT1):c.229+7G>T
NM_001077365.2(POMT1):c.229+8T>G
NM_001077365.2(POMT1):c.230-16T>A
NM_001077365.2(POMT1):c.230-17T>C
NM_001077365.2(POMT1):c.230-9_230-8del rs2131591743
NM_001077365.2(POMT1):c.240A>G (p.Gly80=)
NM_001077365.2(POMT1):c.249T>C (p.Asp83=)
NM_001077365.2(POMT1):c.252C>G (p.Gly84=)
NM_001077365.2(POMT1):c.273T>C (p.Ile91=)
NM_001077365.2(POMT1):c.280+12T>C
NM_001077365.2(POMT1):c.280+16C>A
NM_001077365.2(POMT1):c.280+16C>T
NM_001077365.2(POMT1):c.280+20T>C
NM_001077365.2(POMT1):c.280+7G>A
NM_001077365.2(POMT1):c.280+7_280+8del rs561658895
NM_001077365.2(POMT1):c.281-16G>A
NM_001077365.2(POMT1):c.281-8T>C
NM_001077365.2(POMT1):c.285C>T (p.Tyr95=) rs1554772428
NM_001077365.2(POMT1):c.330C>T (p.Leu110=) rs138064523
NM_001077365.2(POMT1):c.333G>A (p.Ala111=)
NM_001077365.2(POMT1):c.357C>T (p.Ala119=)
NM_001077365.2(POMT1):c.360C>T (p.Tyr120=) rs2131606375
NM_001077365.2(POMT1):c.36G>T (p.Thr12=)
NM_001077365.2(POMT1):c.412C>T (p.Leu138=)
NM_001077365.2(POMT1):c.423T>C (p.Leu141=)
NM_001077365.2(POMT1):c.427+12G>T
NM_001077365.2(POMT1):c.427+17T>G
NM_001077365.2(POMT1):c.427+20C>G
NM_001077365.2(POMT1):c.428-11C>T
NM_001077365.2(POMT1):c.428-7G>A
NM_001077365.2(POMT1):c.428-7G>T
NM_001077365.2(POMT1):c.428-8T>C
NM_001077365.2(POMT1):c.435T>A (p.Ala145=)
NM_001077365.2(POMT1):c.463T>C (p.Leu155=)
NM_001077365.2(POMT1):c.498C>T (p.Ala166=)
NM_001077365.2(POMT1):c.504G>A (p.Leu168=)
NM_001077365.2(POMT1):c.539+15G>A
NM_001077365.2(POMT1):c.539+20T>G
NM_001077365.2(POMT1):c.539+9A>G rs964407139
NM_001077365.2(POMT1):c.540-4C>G
NM_001077365.2(POMT1):c.540-8T>C
NM_001077365.2(POMT1):c.570A>T (p.Leu190=)
NM_001077365.2(POMT1):c.606-12A>G rs1057523851
NM_001077365.2(POMT1):c.606-13C>T
NM_001077365.2(POMT1):c.606-14T>C
NM_001077365.2(POMT1):c.621T>C (p.Gly207=)
NM_001077365.2(POMT1):c.633C>T (p.Tyr211=) rs747129906
NM_001077365.2(POMT1):c.636G>T (p.Val212=)
NM_001077365.2(POMT1):c.63C>T (p.Ala21=)
NM_001077365.2(POMT1):c.673C>T (p.Leu225=)
NM_001077365.2(POMT1):c.675G>A (p.Leu225=)
NM_001077365.2(POMT1):c.688A>T (p.Thr230Ser)
NM_001077365.2(POMT1):c.699+39T>C
NM_001077365.2(POMT1):c.699+45G>T
NM_001077365.2(POMT1):c.699+73G>C
NM_001077365.2(POMT1):c.699+74G>T
NM_001077365.2(POMT1):c.699+75T>C
NM_001077365.2(POMT1):c.699+76G>T
NM_001077365.2(POMT1):c.699+81G>A
NM_001077365.2(POMT1):c.699+83_699+84insAT
NM_001077365.2(POMT1):c.699+85C>T rs369000699
NM_001077365.2(POMT1):c.699T>C (p.Asn233=)
NM_001077365.2(POMT1):c.700-6T>C
NM_001077365.2(POMT1):c.700-7C>T rs1588380391
NM_001077365.2(POMT1):c.708G>A (p.Val236=)
NM_001077365.2(POMT1):c.729A>G (p.Arg243=) rs2131652629
NM_001077365.2(POMT1):c.732A>C (p.Ala244=)
NM_001077365.2(POMT1):c.744G>A (p.Leu248=)
NM_001077365.2(POMT1):c.759C>G (p.Val253=)
NM_001077365.2(POMT1):c.762G>A (p.Leu254=)
NM_001077365.2(POMT1):c.804C>T (p.Arg268=)
NM_001077365.2(POMT1):c.813C>T (p.Pro271=)
NM_001077365.2(POMT1):c.846C>T (p.Ala282=) rs886043307
NM_001077365.2(POMT1):c.84G>C (p.Leu28=)
NM_001077365.2(POMT1):c.855+12G>A
NM_001077365.2(POMT1):c.855+17C>T
NM_001077365.2(POMT1):c.855+19del
NM_001077365.2(POMT1):c.855+20C>T
NM_001077365.2(POMT1):c.855+7A>G
NM_001077365.2(POMT1):c.856-15C>G rs1947072981
NM_001077365.2(POMT1):c.856-16_856-14del
NM_001077365.2(POMT1):c.856-17T>G
NM_001077365.2(POMT1):c.856-18C>T
NM_001077365.2(POMT1):c.856-5C>T rs970574744
NM_001077365.2(POMT1):c.856-6T>C
NM_001077365.2(POMT1):c.870G>A (p.Arg290=)
NM_001077365.2(POMT1):c.885G>A (p.Gln295=)
NM_001077365.2(POMT1):c.888A>G (p.Pro296=)
NM_001077365.2(POMT1):c.889C>T (p.Leu297=)
NM_001077365.2(POMT1):c.897G>A (p.Val299=)
NM_001077365.2(POMT1):c.900C>G (p.Ala300=)
NM_001077365.2(POMT1):c.927C>T (p.Asn309=) rs753694905
NM_001077365.2(POMT1):c.936G>A (p.Gly312=)
NM_001077365.2(POMT1):c.948C>T (p.Pro316=)
NM_001077365.2(POMT1):c.986+10T>C
NM_001077365.2(POMT1):c.986+11G>A
NM_001077365.2(POMT1):c.986+12dup
NM_001077365.2(POMT1):c.987-4A>G
NM_001077365.2(POMT1):c.987-5C>T
NM_001077365.2(POMT1):c.990T>C (p.Tyr330=)
NM_001077365.2(POMT1):c.993G>A (p.Glu331=)
NM_001077365.2(POMT1):c.996C>T (p.Asn332=)

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