ClinVar Miner

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

Included ClinVar conditions (902):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_004371.4(COPA):c.690G>T (p.Lys230Asn) rs864309710
NM_004371.4(COPA):c.698G>A (p.Arg233His) rs794727993
NM_004371.4(COPA):c.721G>A (p.Glu241Lys) rs794727995
NM_004371.4(COPA):c.728A>G (p.Asp243Gly) rs794727994

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