ClinVar Miner

Variants in gene SERPINA1 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: 16
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HGVS dbSNP
NM_000295.5(SERPINA1):c.1069G>A (p.Val357Met) rs373630097
NM_000295.5(SERPINA1):c.1095C>T (p.Asp365=) rs201774333
NM_000295.5(SERPINA1):c.1206T>C (p.Asn402=) rs766128806
NM_000295.5(SERPINA1):c.171C>T (p.Phe57=) rs150784949
NM_000295.5(SERPINA1):c.211A>C (p.Ser71Arg) rs11575873
NM_000295.5(SERPINA1):c.324C>T (p.Leu108=) rs1555369128
NM_000295.5(SERPINA1):c.43C>T (p.Leu15=) rs147283849
NM_000295.5(SERPINA1):c.450A>G (p.Leu150=) rs146596574
NM_000295.5(SERPINA1):c.514G>A (p.Gly172Arg) rs112030253
NM_000295.5(SERPINA1):c.514G>T (p.Gly172Trp) rs112030253
NM_000295.5(SERPINA1):c.552C>T (p.Tyr184=) rs199422210
NM_000295.5(SERPINA1):c.6G>A (p.Pro2=) rs200936638
NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser) rs141620200
NM_000295.5(SERPINA1):c.967C>T (p.Leu323=) rs150455534
NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys) rs121912712
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) rs28929470

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