ClinVar Miner

Variants in gene SERPINA1 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 9
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HGVS dbSNP gnomAD frequency
NM_001127701.1(SERPINA1):c.710T>C (p.Val237Ala) rs6647 0.31278
NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp) rs1303 0.21786
NM_000295.5(SERPINA1):c.*1331G>A rs11568814 0.07789
NM_000295.5(SERPINA1):c.840T>C (p.Asp280=) rs1049800 0.03703
NM_000295.5(SERPINA1):c.774G>A (p.Lys258=) rs34112109 0.01536
NM_000295.5(SERPINA1):c.1068C>T (p.Ala356=) rs9630 0.00897
NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser) rs141620200 0.00222
NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys) rs121912712 0.00033
NM_000295.4(SERPINA1):c.1093G>A (p.Asp365Asn) rs143370956

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