ClinVar Miner

Variants in gene ACTA1 with conflicting interpretations "likely pathogenic" and "pathogenic"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 12
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HGVS dbSNP gnomAD frequency
NM_001100.4(ACTA1):c.990+1G>T rs372686280 0.00001
NM_001100.4(ACTA1):c.1074G>T (p.Trp358Cys) rs587777354
NM_001100.4(ACTA1):c.1127G>T (p.Cys376Phe) rs1571892196
NM_001100.4(ACTA1):c.215C>G (p.Pro72Arg) rs1659978909
NM_001100.4(ACTA1):c.236C>T (p.Thr79Ile) rs1659978452
NM_001100.4(ACTA1):c.419C>A (p.Ala140Asp) rs1435160117
NM_001100.4(ACTA1):c.442G>A (p.Gly148Ser) rs398123563
NM_001100.4(ACTA1):c.478G>A (p.Gly160Ser) rs1064794652
NM_001100.4(ACTA1):c.49G>C (p.Gly17Arg) rs121909521
NM_001100.4(ACTA1):c.541del (p.Asp181fs) rs759242559
NM_001100.4(ACTA1):c.739G>C (p.Gly247Arg) rs1057521117
NM_001100.4(ACTA1):c.809G>A (p.Gly270Asp) rs1553255362

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