ClinVar Miner

List of variants in gene ACTA1 reported as likely pathogenic for childhood-onset nemaline myopathy

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_001100.3(ACTA1):c.1054T>C (p.Ser352Pro) rs1553255301
NM_001100.3(ACTA1):c.1123A>G (p.Lys375Glu)
NM_001100.3(ACTA1):c.142G>A (p.Gly48Ser) rs794727488
NM_001100.3(ACTA1):c.172G>A (p.Asp58Asn) rs1085308014
NM_001100.3(ACTA1):c.197T>A (p.Ile66Asn) rs1553255502
NM_001100.3(ACTA1):c.402G>A (p.Met134Ile) rs1553255486
NM_001100.3(ACTA1):c.413T>A (p.Ile138Asn) rs587780271
NM_001100.3(ACTA1):c.442G>A (p.Gly148Ser) rs398123563
NM_001100.3(ACTA1):c.461T>C (p.Val154Ala) rs1553255446
NM_001100.3(ACTA1):c.521C>T (p.Pro174Leu) rs1057519311
NM_001100.3(ACTA1):c.529A>G (p.Ile177Val) rs1558081804
NM_001100.3(ACTA1):c.682G>C (p.Glu228Gln) rs1558081664
NM_001100.3(ACTA1):c.739G>C (p.Gly247Arg) rs1057521117
NM_001100.3(ACTA1):c.766C>T (p.Arg256Cys) rs1558081624
NM_001100.3(ACTA1):c.782A>T (p.Glu261Val) rs121909523
NM_001100.3(ACTA1):c.812T>G (p.Met271Arg) rs1553255360
NM_001100.3(ACTA1):c.923A>G (p.Tyr308Cys) rs878854374
NM_001100.3(ACTA1):c.990+1G>T rs372686280

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