ClinVar Miner

List of variants in gene ACTA1 reported as uncertain significance for childhood-onset nemaline myopathy

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP
NM_001100.3(ACTA1):c.1001C>T (p.Pro334Leu) rs1553255312
NM_001100.3(ACTA1):c.1003C>G (p.Pro335Ala) rs1558081384
NM_001100.3(ACTA1):c.1004C>T (p.Pro335Leu)
NM_001100.3(ACTA1):c.1014A>C (p.Lys338Asn) rs1553255306
NM_001100.3(ACTA1):c.1031G>A (p.Gly344Asp) rs1558081360
NM_001100.3(ACTA1):c.1109C>A (p.Ser370Tyr) rs1553255290
NM_001100.3(ACTA1):c.121C>G (p.Arg41Gly)
NM_001100.3(ACTA1):c.148G>T (p.Gly50Cys) rs1558082103
NM_001100.3(ACTA1):c.168G>A (p.Val56=)
NM_001100.3(ACTA1):c.283G>A (p.Glu95Lys)
NM_001100.3(ACTA1):c.37G>A (p.Asp13Asn)
NM_001100.3(ACTA1):c.389A>G (p.Asn130Ser) rs766934634
NM_001100.3(ACTA1):c.425T>C (p.Leu142Pro) rs1553255482
NM_001100.3(ACTA1):c.453C>T (p.Thr151=) rs76030344
NM_001100.3(ACTA1):c.461_478del (p.Val154_Asp159del) rs1553255444
NM_001100.3(ACTA1):c.478G>A (p.Gly160Ser) rs1064794652
NM_001100.3(ACTA1):c.539T>C (p.Leu180Pro) rs1558081797
NM_001100.3(ACTA1):c.598T>A (p.Tyr200Asn) rs1553255432
NM_001100.3(ACTA1):c.606C>A (p.Phe202Leu) rs1255258064
NM_001100.3(ACTA1):c.617C>T (p.Ala206Val)
NM_001100.3(ACTA1):c.659A>T (p.Tyr220Phe)
NM_001100.3(ACTA1):c.676G>C (p.Glu226Gln) rs1057521118
NM_001100.3(ACTA1):c.685A>T (p.Met229Leu)
NM_001100.3(ACTA1):c.713T>C (p.Leu238Pro)
NM_001100.3(ACTA1):c.796C>T (p.Pro266Ser) rs1553255405
NM_001100.3(ACTA1):c.808+6C>A rs200342114
NM_001100.3(ACTA1):c.80A>G (p.Asp27Gly) rs1553255534
NM_001100.3(ACTA1):c.811A>G (p.Met271Val) rs1553255361
NM_001100.3(ACTA1):c.821C>A (p.Ala274Glu)
NM_001100.3(ACTA1):c.82G>C (p.Ala28Pro)
NM_001100.3(ACTA1):c.897C>A (p.Asn299Lys)
NM_001100.3(ACTA1):c.898G>T (p.Val300Phe) rs1553255349
NM_001100.3(ACTA1):c.963_968del (p.Leu322_Ala323del) rs1553255336
NM_001100.3(ACTA1):c.965T>A (p.Leu322Gln)
NM_001100.3(ACTA1):c.981G>C (p.Met327Ile) rs1553255334

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