ClinVar Miner

List of variants in gene POMT1 reported by Athena Diagnostics Inc

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Gene type:
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Total variants: 51
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HGVS dbSNP
NM_001077365.2(POMT1):c.1047= (p.Asp349=) rs3739494
NM_001077365.2(POMT1):c.1064T>C (p.Ile355Thr) rs1334264954
NM_001077365.2(POMT1):c.1117G>C (p.Val373Leu) rs200508760
NM_001077365.2(POMT1):c.1125C>T (p.His375=) rs35242383
NM_001077365.2(POMT1):c.1149C>T (p.His383=) rs202121299
NM_001077365.2(POMT1):c.1150G>A (p.Gly384Ser) rs146234177
NM_001077365.2(POMT1):c.1190C>A (p.Ala397Asp) rs1564364465
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) rs11243406
NM_001077365.2(POMT1):c.1275A>G (p.Glu425=) rs62620174
NM_001077365.2(POMT1):c.1354G>A (p.Ala452Thr) rs150702948
NM_001077365.2(POMT1):c.1451C>T (p.Thr484Met) rs201220016
NM_001077365.2(POMT1):c.1479C>T (p.Tyr493=) rs62636653
NM_001077365.2(POMT1):c.1484C>T (p.Ala495Val) rs761439623
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) rs117985576
NM_001077365.2(POMT1):c.1598C>T (p.Ala533Val) rs199682341
NM_001077365.2(POMT1):c.1601T>C (p.Leu534Pro) rs1489617043
NM_001077365.2(POMT1):c.1617G>A (p.Ser539=) rs778687698
NM_001077365.2(POMT1):c.1692G>A (p.Arg564=) rs34954751
NM_001077365.2(POMT1):c.1698+10C>A rs184131819
NM_001077365.2(POMT1):c.1698C>T (p.Ser566=) rs150814269
NM_001077365.2(POMT1):c.1729A>G (p.Ile577Val) rs749978093
NM_001077365.2(POMT1):c.178T>C (p.Phe60Leu) rs1564332130
NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln) rs202140413
NM_001077365.2(POMT1):c.1826-6C>A rs140258585
NM_001077365.2(POMT1):c.1826-7C>A rs148180760
NM_001077365.2(POMT1):c.1828G>A (p.Ala610Thr) rs773190071
NM_001077365.2(POMT1):c.1856C>T (p.Ala619Val) rs12115566
NM_001077365.2(POMT1):c.1932C>T (p.Tyr644=) rs146512619
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr) rs119462987
NM_001077365.2(POMT1):c.1986C>T (p.Ile662=) rs140553130
NM_001077365.2(POMT1):c.2060C>T (p.Ala687Val) rs138171526
NM_001077365.2(POMT1):c.2068G>A (p.Val690Met) rs150209587
NM_001077365.2(POMT1):c.2115G>A (p.Ser705=) rs76092524
NM_001077365.2(POMT1):c.2132C>T (p.Ala711Val) rs769694503
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.426C>T (p.Ile142=) rs771390000
NM_001077365.2(POMT1):c.539+3A>C rs780457748
NM_001077365.2(POMT1):c.574_575del (p.Leu192fs) rs1554773974
NM_001077365.2(POMT1):c.586G>A (p.Ala196Thr) rs199498900
NM_001077365.2(POMT1):c.699+14T>A rs370038491
NM_001077365.2(POMT1):c.699+52C>T rs3887873
NM_001077365.2(POMT1):c.699+53= rs2296949
NM_001077365.2(POMT1):c.699+67del rs1588377489
NM_001077365.2(POMT1):c.781G>A (p.Val261Ile) rs759734493
NM_001077365.2(POMT1):c.78G>A (p.Gly26=) rs149554732
NM_001077365.2(POMT1):c.847A>C (p.Ser283Arg) rs747506380
NM_001077365.2(POMT1):c.876= (p.Thr292=) rs10901065
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.986+9A>G rs202095070

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