ClinVar Miner

Variants in gene ABCA12 with conflicting interpretations "benign" and "uncertain significance"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP gnomAD frequency
NM_173076.3(ABCA12):c.2033A>G (p.Asn678Ser) rs147218173 0.00138
NM_173076.3(ABCA12):c.485C>T (p.Ala162Val) rs149399707 0.00126
NM_173076.3(ABCA12):c.3481A>T (p.Met1161Leu) rs141077206 0.00092
NM_173076.3(ABCA12):c.5221C>T (p.Arg1741Cys) rs141036904 0.00058
NM_173076.3(ABCA12):c.2078C>A (p.Ser693Tyr) rs148445044 0.00027
NM_173076.3(ABCA12):c.627A>C (p.Lys209Asn) rs149882663 0.00014

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