ClinVar Miner

List of variants in gene combination CYP21A2, LOC106780800 reported as likely pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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NM_000500.9(CYP21A2):c.1118G>A (p.Ser373Asn) rs1554305880
NM_000500.9(CYP21A2):c.1136T>A (p.Ile379Asn) rs1429901248
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000500.9(CYP21A2):c.1450dup (p.Arg484fs)
NM_000500.9(CYP21A2):c.159_160del (p.Gln54fs) rs886038207
NM_000500.9(CYP21A2):c.20dup (p.Leu8fs)
NM_000500.9(CYP21A2):c.254del (p.Lys85fs)
NM_000500.9(CYP21A2):c.274A>G (p.Arg92Gly) rs1554304513
NM_000500.9(CYP21A2):c.559T>G (p.Leu187Val)
NM_000500.9(CYP21A2):c.754G>A (p.Gly252Ser)
NM_000500.9(CYP21A2):c.782T>C (p.Met261Thr)
NM_000500.9(CYP21A2):c.782T>G (p.Met261Arg)
NM_000500.9(CYP21A2):c.850A>G (p.Met284Val)
NM_001128590.3(CYP21A2):c.868_870GAG[1] (p.Glu291del)

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