ClinVar Miner

List of variants reported as pathogenic for chronic intestinal pseudoobstruction

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001110556.2(FLNA):c.18_19del (p.Arg7fs) rs398122521
NM_001110556.2(FLNA):c.2280+389T>A rs1557178535
NM_001110556.2(FLNA):c.67_68del (p.Thr23fs) rs80338840
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
NM_001982.4(ERBB3):c.1914-7C>G
NM_001982.4(ERBB3):c.2359A>C (p.Thr787Pro) rs2136818517
NM_001982.4(ERBB3):c.2695G>A (p.Val899Met) rs2136822199
NM_001982.4(ERBB3):c.2942_2945del
NM_001982.4(ERBB3):c.3297del (p.His1100fs) rs1869082532
NM_003221.4(TFAP2B):c.602-5_606del rs2113949539

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