ClinVar Miner

List of variants in gene A2ML1 reported as uncertain significance by GeneDx

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_144670.6(A2ML1):c.814C>T (p.Arg272Trp) rs201215628 0.00026
NM_144670.6(A2ML1):c.2404C>T (p.Arg802Cys) rs367937691 0.00021
NM_144670.6(A2ML1):c.2464G>A (p.Val822Ile) rs201752325 0.00012
NM_144670.6(A2ML1):c.2231T>C (p.Ile744Thr) rs376655036 0.00006
NM_144670.6(A2ML1):c.2945T>C (p.Ile982Thr) rs759983928 0.00004
NM_144670.6(A2ML1):c.650C>T (p.Pro217Leu) rs773797927 0.00004
NM_144670.6(A2ML1):c.1678A>G (p.Asn560Asp) rs764188902 0.00003
NM_144670.6(A2ML1):c.4094C>T (p.Ala1365Val) rs765371747 0.00003
NM_144670.6(A2ML1):c.2117G>A (p.Gly706Asp) rs772497821 0.00002
NM_144670.6(A2ML1):c.*1+1G>A rs1057518179 0.00001
NM_144670.6(A2ML1):c.1261A>T (p.Met421Leu) rs768501124 0.00001
NM_144670.6(A2ML1):c.3116C>T (p.Ala1039Val) rs769398333 0.00001
NM_144670.6(A2ML1):c.4097T>C (p.Ile1366Thr) rs886041924 0.00001
NM_144670.6(A2ML1):c.171G>T (p.Glu57Asp) rs939451589
NM_144670.6(A2ML1):c.2300G>C (p.Ser767Thr) rs886042052
NM_144670.6(A2ML1):c.2401G>T (p.Val801Phe) rs1555113215
NM_144670.6(A2ML1):c.2849G>A (p.Gly950Glu) rs267603716
NM_144670.6(A2ML1):c.3233A>T (p.Asn1078Ile) rs769308270
NM_144670.6(A2ML1):c.3612_3613delinsTATGCA (p.Gln1204fs) rs1565489901
NM_144670.6(A2ML1):c.3775T>C (p.Ser1259Pro) rs1565492493
NM_144670.6(A2ML1):c.4121G>A (p.Gly1374Glu) rs1057524238
NM_144670.6(A2ML1):c.462+2T>C rs201877710
NM_144670.6(A2ML1):c.630T>G (p.Ser210Arg) rs1565466561
NM_144670.6(A2ML1):c.787A>C (p.Asn263His) rs886041510

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