ClinVar Miner

List of variants in gene ACD reported as uncertain significance for not provided

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001082486.2(ACD):c.613A>G (p.Thr205Ala) rs139438549 0.00098
NM_001082486.2(ACD):c.482C>T (p.Ser161Leu) rs149051014 0.00013
NM_001082486.2(ACD):c.1316T>C (p.Met439Thr) rs202222217 0.00010
NM_001082486.2(ACD):c.488A>G (p.Asn163Ser) rs370512338 0.00009
NM_001082486.2(ACD):c.493+7T>C rs199626332 0.00008
NM_001082486.2(ACD):c.962C>T (p.Ser321Leu) rs374925782 0.00008
NM_001082486.2(ACD):c.1168G>A (p.Gly390Arg) rs553014261 0.00005
NM_001082486.2(ACD):c.1178G>A (p.Arg393Lys) rs531580930 0.00005
NM_001082486.2(ACD):c.617A>C (p.His206Pro) rs755371076 0.00005
NM_001082486.2(ACD):c.446A>G (p.Tyr149Cys) rs200909340 0.00004
NM_001082486.2(ACD):c.1201G>A (p.Val401Ile) rs771802167 0.00003
NM_001082486.2(ACD):c.1370C>T (p.Pro457Leu) rs150387011 0.00002
NC_000016.10:g.67660304C>T rs1406176384 0.00001
NM_001082486.2(ACD):c.1117A>G (p.Lys373Glu) rs1176289879 0.00001
NM_001082486.2(ACD):c.1147C>T (p.Arg383Trp) rs747913250 0.00001
NM_001082486.2(ACD):c.1181G>A (p.Gly394Glu) rs1475118457 0.00001
NM_001082486.2(ACD):c.337-6C>T rs772943251 0.00001
NM_001082486.2(ACD):c.631C>T (p.Arg211Ter) rs1339068886 0.00001
NM_001082486.2(ACD):c.839C>G (p.Ala280Gly) rs779705657 0.00001
NM_001082486.2(ACD):c.*4G>A
NM_001082486.2(ACD):c.-37C>G
NM_001082486.2(ACD):c.139C>G (p.His47Asp) rs1057522813
NM_001082486.2(ACD):c.336G>A (p.Ala112=)
NM_001082486.2(ACD):c.640del (p.Ala214fs) rs2543603211
NM_001082486.2(ACD):c.817_828del (p.Pro273_Ser276del) rs777131279

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