ClinVar Miner

List of variants in gene POMT1 reported as likely benign by Invitae

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Gene type:
ClinVar version:
Total variants: 84
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HGVS dbSNP
NM_001077365.2(POMT1):c.1068A>G (p.Val356=) rs1280401262
NM_001077365.2(POMT1):c.1116T>C (p.Pro372=) rs146945848
NM_001077365.2(POMT1):c.111G>A (p.Pro37=) rs761641734
NM_001077365.2(POMT1):c.111G>C (p.Pro37=) rs761641734
NM_001077365.2(POMT1):c.1167C>T (p.Ser389=)
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.1224C>T (p.Cys408=)
NM_001077365.2(POMT1):c.123-6T>C rs201486083
NM_001077365.2(POMT1):c.1251C>T (p.Pro417=)
NM_001077365.2(POMT1):c.1272+8A>G
NM_001077365.2(POMT1):c.1273-10del
NM_001077365.2(POMT1):c.1281G>A (p.Val427=) rs139720304
NM_001077365.2(POMT1):c.129C>T (p.Asp43=) rs200465419
NM_001077365.2(POMT1):c.1302C>T (p.Asp434=) rs568246978
NM_001077365.2(POMT1):c.1323A>C (p.Ser441=) rs753403833
NM_001077365.2(POMT1):c.1365+10C>T rs200089530
NM_001077365.2(POMT1):c.1366-6C>T rs781702944
NM_001077365.2(POMT1):c.1443C>T (p.His481=) rs139415150
NM_001077365.2(POMT1):c.1448G>A (p.Ser483Asn) rs750937093
NM_001077365.2(POMT1):c.1452G>A (p.Thr484=)
NM_001077365.2(POMT1):c.1461C>T (p.Asn487=) rs373482514
NM_001077365.2(POMT1):c.1486+9G>A rs547775333
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) rs117985576
NM_001077365.2(POMT1):c.1536G>A (p.Val512=)
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg) rs150367385
NM_001077365.2(POMT1):c.1560C>T (p.Phe520=) rs1588476051
NM_001077365.2(POMT1):c.1584+10G>A rs377495957
NM_001077365.2(POMT1):c.1584+9C>T rs1219705170
NM_001077365.2(POMT1):c.1614C>T (p.Asp538=) rs141933812
NM_001077365.2(POMT1):c.1617G>A (p.Ser539=) rs778687698
NM_001077365.2(POMT1):c.1641A>C (p.Pro547=)
NM_001077365.2(POMT1):c.1644G>A (p.Leu548=)
NM_001077365.2(POMT1):c.1647G>A (p.Glu549=) rs757830349
NM_001077365.2(POMT1):c.1668T>C (p.Asn556=)
NM_001077365.2(POMT1):c.1671T>C (p.Ile557=) rs200969468
NM_001077365.2(POMT1):c.1698+7G>A rs367775263
NM_001077365.2(POMT1):c.1699-7C>T
NM_001077365.2(POMT1):c.1746C>T (p.Ser582=) rs376373313
NM_001077365.2(POMT1):c.1758C>T (p.Ala586=)
NM_001077365.2(POMT1):c.1797G>A (p.Arg599=)
NM_001077365.2(POMT1):c.1806T>C (p.Asn602=)
NM_001077365.2(POMT1):c.1825+9C>T rs747140354
NM_001077365.2(POMT1):c.1826-7_1826-6delinsAA rs1064793740
NM_001077365.2(POMT1):c.1848G>C (p.Leu616=)
NM_001077365.2(POMT1):c.1866C>T (p.Ala622=) rs200652115
NM_001077365.2(POMT1):c.1890C>T (p.Leu630=)
NM_001077365.2(POMT1):c.1938C>T (p.Pro646=) rs1481940320
NM_001077365.2(POMT1):c.198G>A (p.Pro66=) rs369877185
NM_001077365.2(POMT1):c.2003+9G>A rs368975092
NM_001077365.2(POMT1):c.2031C>T (p.Ser677=) rs778418119
NM_001077365.2(POMT1):c.2058C>T (p.Ser686=) rs886043948
NM_001077365.2(POMT1):c.2061G>A (p.Ala687=) rs200916353
NM_001077365.2(POMT1):c.2067C>T (p.His689=) rs141895982
NM_001077365.2(POMT1):c.2070G>A (p.Val690=)
NM_001077365.2(POMT1):c.2079G>A (p.Thr693=) rs200603905
NM_001077365.2(POMT1):c.2097C>T (p.Tyr699=) rs138902646
NM_001077365.2(POMT1):c.2127C>A (p.Leu709=)
NM_001077365.2(POMT1):c.2168G>A (p.Arg723Gln) rs144051476
NM_001077365.2(POMT1):c.2178G>A (p.Ter726=) rs147143094
NM_001077365.2(POMT1):c.246C>T (p.Phe82=) rs148887050
NM_001077365.2(POMT1):c.280+7_280+8del rs561658895
NM_001077365.2(POMT1):c.285C>T (p.Tyr95=) rs1554772428
NM_001077365.2(POMT1):c.291C>T (p.Ser97=)
NM_001077365.2(POMT1):c.30G>A (p.Val10=) rs201533471
NM_001077365.2(POMT1):c.330C>T (p.Leu110=) rs138064523
NM_001077365.2(POMT1):c.36G>A (p.Thr12=) rs201262353
NM_001077365.2(POMT1):c.408T>G (p.Ala136=) rs748757994
NM_001077365.2(POMT1):c.42C>T (p.Asp14=) rs150937126
NM_001077365.2(POMT1):c.568C>T (p.Leu190=) rs752931210
NM_001077365.2(POMT1):c.579A>G (p.Thr193=)
NM_001077365.2(POMT1):c.585C>T (p.Val195=)
NM_001077365.2(POMT1):c.600A>G (p.Ala200=) rs755854450
NM_001077365.2(POMT1):c.630G>A (p.Thr210=) rs553160213
NM_001077365.2(POMT1):c.639C>T (p.Leu213=) rs267602149
NM_001077365.2(POMT1):c.700-7C>T rs1588380391
NM_001077365.2(POMT1):c.723C>T (p.Leu241=) rs765290860
NM_001077365.2(POMT1):c.729A>G (p.Arg243=)
NM_001077365.2(POMT1):c.774C>T (p.Phe258=) rs761217834
NM_001077365.2(POMT1):c.780C>T (p.Tyr260=)
NM_001077365.2(POMT1):c.816C>T (p.His272=) rs191404622
NM_001077365.2(POMT1):c.846C>T (p.Ala282=) rs886043307
NM_001077365.2(POMT1):c.927C>T (p.Asn309=) rs753694905
NM_001077365.2(POMT1):c.986+9A>G rs202095070

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