ClinVar Miner

List of variants in gene NUP93 reported as 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: 5
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HGVS dbSNP
NM_014669.5(NUP93):c.1162C>T (p.Arg388Trp) rs145146218
NM_014669.5(NUP93):c.1326del (p.Lys442fs) rs869320695
NM_014669.5(NUP93):c.1537+1G>A rs138909849
NM_014669.5(NUP93):c.1772G>T (p.Gly591Val) rs145473779
NM_014669.5(NUP93):c.1886A>G (p.Tyr629Cys) rs757674160

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