ClinVar Miner

List of variants in gene POMT1 reported as uncertain significance by Athena Diagnostics Inc

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001077365.2(POMT1):c.1598C>T (p.Ala533Val) rs199682341 0.00024
NM_001077365.2(POMT1):c.1150G>A (p.Gly384Ser) rs146234177 0.00021
NM_001077365.2(POMT1):c.586G>A (p.Ala196Thr) rs199498900 0.00017
NM_001077365.2(POMT1):c.1117G>C (p.Val373Leu) rs200508760 0.00015
NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln) rs202140413 0.00011
NM_001077365.2(POMT1):c.1451C>T (p.Thr484Met) rs201220016 0.00007
NM_001077365.2(POMT1):c.847A>C (p.Ser283Arg) rs747506380 0.00006
NM_001077365.2(POMT1):c.2132C>T (p.Ala711Val) rs769694503 0.00004
NM_001077365.2(POMT1):c.1729A>G (p.Ile577Val) rs749978093 0.00002
NM_001077365.2(POMT1):c.1828G>A (p.Ala610Thr) rs773190071 0.00002
NM_001077365.2(POMT1):c.699+14T>A rs370038491 0.00002
NM_001077365.2(POMT1):c.817G>A (p.Asp273Asn) rs754611085 0.00002
NM_001077365.2(POMT1):c.1064T>C (p.Ile355Thr) rs1334264954 0.00001
NM_001077365.2(POMT1):c.1354G>A (p.Ala452Thr) rs150702948 0.00001
NM_001077365.2(POMT1):c.1484C>T (p.Ala495Val) rs761439623 0.00001
NM_001077365.2(POMT1):c.1601T>C (p.Leu534Pro) rs1489617043 0.00001
NM_001077365.2(POMT1):c.2068G>A (p.Val690Met) rs150209587 0.00001
NM_001077365.2(POMT1):c.426C>T (p.Ile142=) rs771390000 0.00001
NM_001077365.2(POMT1):c.697_699del (p.Asn233del) rs761863400 0.00001
NM_001077365.2(POMT1):c.1190C>A (p.Ala397Asp) rs1564364465
NM_001077365.2(POMT1):c.1315A>T (p.Ile439Phe)
NM_001077365.2(POMT1):c.178T>C (p.Phe60Leu) rs1564332130
NM_001077365.2(POMT1):c.195GCC[1] (p.Pro67del)
NM_001077365.2(POMT1):c.2050T>C (p.Tyr684His) rs113633543
NM_001077365.2(POMT1):c.539+3A>C rs780457748
NM_001077365.2(POMT1):c.781G>A (p.Val261Ile) rs759734493

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