ClinVar Miner

List of variants in gene POMT1 reported as likely benign for congenital muscular dystrophy

Included ClinVar conditions (110):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 433
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001077365.2(POMT1):c.699+52C>T rs3887873 0.12205
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile) rs4740164 0.04243
NM_001077365.2(POMT1):c.1856C>T (p.Ala619Val) rs12115566 0.01621
NM_001077365.2(POMT1):c.1479C>T (p.Tyr493=) rs62636653 0.01037
NM_001077365.2(POMT1):c.1125C>T (p.His375=) rs35242383 0.01019
NM_001077365.2(POMT1):c.2137C>T (p.Arg713Cys) rs147266709 0.00982
NM_001077365.2(POMT1):c.78G>A (p.Gly26=) rs149554732 0.00980
NM_001077365.2(POMT1):c.-6T>G rs62620173 0.00840
NM_001077365.2(POMT1):c.1826-6C>A rs140258585 0.00816
NM_001077365.2(POMT1):c.1826-7C>A rs148180760 0.00816
NM_001077365.2(POMT1):c.*206A>G rs111470256 0.00610
NM_001077365.2(POMT1):c.2060C>T (p.Ala687Val) rs138171526 0.00378
NM_001077365.2(POMT1):c.1585-14C>T rs78529026 0.00332
NM_001077365.2(POMT1):c.1698C>T (p.Ser566=) rs150814269 0.00324
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=)

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.