ClinVar Miner

List of variants in gene ACTG2 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (913):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_001615.4(ACTG2):c.118C>T (p.Arg40Cys) rs587777385
NM_001615.4(ACTG2):c.119G>A (p.Arg40His) rs587777386
NM_001615.4(ACTG2):c.134T>C (p.Met45Thr) rs864309490
NM_001615.4(ACTG2):c.187C>G (p.Arg63Gly) rs864309491
NM_001615.4(ACTG2):c.255+210C>A rs768290597
NM_001615.4(ACTG2):c.400T>A (p.Tyr134Asn) rs587777388
NM_001615.4(ACTG2):c.442C>A (p.Arg148Ser) rs587777383
NM_001615.4(ACTG2):c.532C>T (p.Arg178Cys) rs78001248
NM_001615.4(ACTG2):c.533G>A (p.Arg178His) rs587777384
NM_001615.4(ACTG2):c.533G>T (p.Arg178Leu) rs587777384
NM_001615.4(ACTG2):c.593G>A (p.Gly198Asp) rs864309492
NM_001615.4(ACTG2):c.613G>A (p.Ala205Thr) rs1057516046
NM_001615.4(ACTG2):c.769C>T (p.Arg257Cys) rs587777387
NM_001615.4(ACTG2):c.806_807delinsAA (p.Gly269Glu) rs587777870

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