ClinVar Miner

List of variants in gene ACTG2 reported as pathogenic for chronic intestinal pseudoobstruction

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001615.4(ACTG2):c.113G>A (p.Arg38His) rs869312168
NM_001615.4(ACTG2):c.119G>A (p.Arg40His) rs587777386
NM_001615.4(ACTG2):c.442C>A (p.Arg148Ser) rs587777383
NM_001615.4(ACTG2):c.769C>T (p.Arg257Cys) rs587777387
NM_001615.4(ACTG2):c.770G>A (p.Arg257His) rs797044959

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