ClinVar Miner

List of variants in gene POMT1 reported as likely benign

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Gene type:
ClinVar version:
Total variants: 153
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HGVS dbSNP
NM_001077365.2(POMT1):c.*206A>G
NM_001077365.2(POMT1):c.-20T>C rs201733950
NM_001077365.2(POMT1):c.-30-16C>T rs771949915
NM_001077365.2(POMT1):c.-31+16C>G rs535602204
NM_001077365.2(POMT1):c.-31+228dup rs527286034
NM_001077365.2(POMT1):c.-37A>G rs1588303228
NM_001077365.2(POMT1):c.-6T>G rs62620173
NM_001077365.2(POMT1):c.1068A>G (p.Val356=) rs1280401262
NM_001077365.2(POMT1):c.1083-224G>A rs77125240
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.1125C>T (p.His375=) rs35242383
NM_001077365.2(POMT1):c.1126G>A (p.Gly376Arg) rs146869947
NM_001077365.2(POMT1):c.1149C>T (p.His383=) rs202121299
NM_001077365.2(POMT1):c.1167C>T (p.Ser389=)
NM_001077365.2(POMT1):c.1175+13G>A rs777087288
NM_001077365.2(POMT1):c.1175+16G>A rs371908251
NM_001077365.2(POMT1):c.1176-16G>A rs199684856
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.123-5dup rs148086540
NM_001077365.2(POMT1):c.123-6T>C rs201486083
NM_001077365.2(POMT1):c.123-6_123-5dup rs148086540
NM_001077365.2(POMT1):c.1251C>T (p.Pro417=)
NM_001077365.2(POMT1):c.1272+196C>T rs113330289
NM_001077365.2(POMT1):c.1272+262G>C rs113878457
NM_001077365.2(POMT1):c.1272+84C>T rs77373739
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.1303G>A (p.Val435Ile) rs377304621
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.1365+10C>T rs200089530
NM_001077365.2(POMT1):c.1365+15C>T rs58896330
NM_001077365.2(POMT1):c.1366-12C>T rs757666938
NM_001077365.2(POMT1):c.1366-6C>T rs781702944
NM_001077365.2(POMT1):c.1371C>T (p.Ser457=) rs746412899
NM_001077365.2(POMT1):c.1416C>T (p.Val472=) rs139687326
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.1479C>T (p.Tyr493=) rs62636653
NM_001077365.2(POMT1):c.1486+14G>A rs142995404
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.1585-14C>T rs78529026
NM_001077365.2(POMT1):c.1585-47G>T rs201675418
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+10C>A rs184131819
NM_001077365.2(POMT1):c.1698+11G>C rs115243626
NM_001077365.2(POMT1):c.1698+7G>A rs367775263
NM_001077365.2(POMT1):c.1698C>T (p.Ser566=) rs150814269
NM_001077365.2(POMT1):c.1699-19A>G rs761855332
NM_001077365.2(POMT1):c.1699-7C>T
NM_001077365.2(POMT1):c.1727T>C (p.Val576Ala) rs144338642
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+237T>C rs113453750
NM_001077365.2(POMT1):c.1825+6T>C rs1366898427
NM_001077365.2(POMT1):c.1825+9C>T rs747140354
NM_001077365.2(POMT1):c.1826-40G>A rs187443595
NM_001077365.2(POMT1):c.1826-6C>A rs140258585
NM_001077365.2(POMT1):c.1826-7C>A rs148180760
NM_001077365.2(POMT1):c.1826-7_1826-6delinsAA rs1064793740
NM_001077365.2(POMT1):c.1848G>C (p.Leu616=)
NM_001077365.2(POMT1):c.1856C>T (p.Ala619Val) rs12115566
NM_001077365.2(POMT1):c.1866C>T (p.Ala622=) rs200652115
NM_001077365.2(POMT1):c.1890C>T (p.Leu630=)
NM_001077365.2(POMT1):c.1932C>T (p.Tyr644=) rs146512619
NM_001077365.2(POMT1):c.1938C>T (p.Pro646=) rs1481940320
NM_001077365.2(POMT1):c.1986C>T (p.Ile662=) rs140553130
NM_001077365.2(POMT1):c.198G>A (p.Pro66=) rs369877185
NM_001077365.2(POMT1):c.2003+10C>T rs1474253398
NM_001077365.2(POMT1):c.2003+9G>A rs368975092
NM_001077365.2(POMT1):c.2004-20C>T rs372767898
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.2060C>T (p.Ala687Val) rs138171526
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.2115G>A (p.Ser705=) rs76092524
NM_001077365.2(POMT1):c.2127C>A (p.Leu709=)
NM_001077365.2(POMT1):c.2137C>T (p.Arg713Cys) rs147266709
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.281-5T>C rs367743923
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>G (p.Leu110=) rs138064523
NM_001077365.2(POMT1):c.330C>T (p.Leu110=) rs138064523
NM_001077365.2(POMT1):c.345G>A (p.Ser115=) rs147212285
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.427+12G>A rs372588957
NM_001077365.2(POMT1):c.42C>T (p.Asp14=) rs150937126
NM_001077365.2(POMT1):c.501G>A (p.Val167=) rs757051194
NM_001077365.2(POMT1):c.539+19C>T rs376642449
NM_001077365.2(POMT1):c.539+3A>G rs780457748
NM_001077365.2(POMT1):c.568C>T (p.Leu190=) rs752931210
NM_001077365.2(POMT1):c.579A>G (p.Thr193=)
NM_001077365.2(POMT1):c.57T>C (p.Leu19=) rs886043325
NM_001077365.2(POMT1):c.585C>T (p.Val195=)
NM_001077365.2(POMT1):c.600A>G (p.Ala200=) rs755854450
NM_001077365.2(POMT1):c.606-12A>G rs1057523851
NM_001077365.2(POMT1):c.606-9T>C rs760178838
NM_001077365.2(POMT1):c.630G>A (p.Thr210=) rs553160213
NM_001077365.2(POMT1):c.633C>T (p.Tyr211=) rs747129906
NM_001077365.2(POMT1):c.639C>T (p.Leu213=) rs267602149
NM_001077365.2(POMT1):c.699+33G>A rs750646014
NM_001077365.2(POMT1):c.699+52C>T rs3887873
NM_001077365.2(POMT1):c.699+72T>C rs200780140
NM_001077365.2(POMT1):c.699+85C>G rs369000699
NM_001077365.2(POMT1):c.699+85C>T rs369000699
NM_001077365.2(POMT1):c.700-28A>G rs187996836
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.78G>A (p.Gly26=) rs149554732
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.855+6T>C rs200692465
NM_001077365.2(POMT1):c.891G>A (p.Leu297=) rs76109289
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile) rs4740164
NM_001077365.2(POMT1):c.919C>T (p.Leu307=) rs983634068
NM_001077365.2(POMT1):c.927C>T (p.Asn309=) rs753694905
NM_001077365.2(POMT1):c.986+9A>G rs202095070

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