ClinVar Miner

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

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 14
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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.1141G>C (p.Val381Leu) rs143513000 0.00105
NM_173076.3(ABCA12):c.3481A>T (p.Met1161Leu) rs141077206 0.00092
NM_173076.3(ABCA12):c.3949A>G (p.Met1317Val) rs145178648 0.00057
NM_173076.3(ABCA12):c.5747C>T (p.Thr1916Ile) rs373276045 0.00039
NM_173076.3(ABCA12):c.2945A>C (p.Lys982Thr) rs142196906 0.00037
NM_173076.3(ABCA12):c.2744C>T (p.Ser915Phe) rs139223000 0.00011
NM_173076.3(ABCA12):c.1446A>C (p.Glu482Asp) rs368135271 0.00009
NM_173076.3(ABCA12):c.4873A>G (p.Thr1625Ala) rs553840038 0.00004
NM_173076.3(ABCA12):c.212T>A (p.Leu71Gln) rs776056801 0.00001
NM_173076.3(ABCA12):c.899A>G (p.Tyr300Cys) rs778915456 0.00001
NM_173076.3(ABCA12):c.2638G>C (p.Val880Leu) rs146002078
NM_173076.3(ABCA12):c.746T>C (p.Met249Thr)

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