ClinVar Miner

List of variants in gene ACD reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001082486.2(ACD):c.109G>A (p.Asp37Asn) rs142662151 0.00031
NM_001082486.2(ACD):c.997G>A (p.Ala333Thr) rs202104741 0.00031
NM_001082486.2(ACD):c.962C>T (p.Ser321Leu) rs374925782 0.00008
NM_001082486.2(ACD):c.446A>G (p.Tyr149Cys) rs200909340 0.00005
NM_001082486.2(ACD):c.617A>C (p.His206Pro) rs755371076 0.00005
NM_001082486.2(ACD):c.793C>G (p.Leu265Val) rs200934242 0.00005
NM_001082486.2(ACD):c.602C>T (p.Ala201Val) rs777707916 0.00003
NM_001082486.2(ACD):c.980C>G (p.Thr327Ser) rs1300291520 0.00003
NM_001082486.2(ACD):c.1370C>T (p.Pro457Leu) rs150387011 0.00002
NM_001082486.2(ACD):c.1052G>A (p.Arg351His) rs370293582 0.00001
NM_001082486.2(ACD):c.124G>A (p.Val42Ile) rs758513965 0.00001
NM_001082486.2(ACD):c.67C>A (p.Pro23Thr) rs1039048796 0.00001
NM_001082486.2(ACD):c.725C>T (p.Pro242Leu) rs139256582 0.00001
NM_001082486.2(ACD):c.836C>T (p.Pro279Leu) rs1370466465 0.00001
NM_001082486.2(ACD):c.85G>C (p.Gly29Arg) rs754815475 0.00001
NM_001082486.2(ACD):c.5C>T (p.Ala2Val) rs1349871606
NM_001082486.2(ACD):c.605C>A (p.Pro202His) rs1238004090
NM_001082486.2(ACD):c.645G>T (p.Thr215=) rs571116752
NM_001082486.2(ACD):c.749del (p.Glu250fs) rs2142969929

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