ClinVar Miner

List of variants in gene ACTG1 reported as likely benign for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_001614.5(ACTG1):c.105C>T (p.Val35=) rs11549193
NM_001614.5(ACTG1):c.126C>T (p.Gly42=) rs11549197
NM_001614.5(ACTG1):c.128T>C (p.Val43Ala)
NM_001614.5(ACTG1):c.180C>T (p.Ser60=) rs144338558
NM_001614.5(ACTG1):c.201G>C (p.Leu67=) rs782754511
NM_001614.5(ACTG1):c.210C>T (p.Pro70=) rs201275526
NM_001614.5(ACTG1):c.285C>T (p.Arg95=) rs782236244
NM_001614.5(ACTG1):c.315G>A (p.Leu105=) rs202094234
NM_001614.5(ACTG1):c.364-8C>T rs201748657
NM_001614.5(ACTG1):c.657C>T (p.Val219=) rs782248094
NM_001614.5(ACTG1):c.795C>T (p.Ser265=) rs146493032
NM_001614.5(ACTG1):c.802+10G>A rs1555666580
NM_001614.5(ACTG1):c.803-4C>T rs782608976
NM_001614.5(ACTG1):c.803-7C>T rs150136833
NM_001614.5(ACTG1):c.831C>T (p.Thr277=)
NM_001614.5(ACTG1):c.978G>A (p.Lys326=) rs139339869
NM_001614.5(ACTG1):c.984+7C>T rs369691985
NM_001614.5(ACTG1):c.985-7dup rs782289893

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