ClinVar Miner

List of variants in gene PAX2 reported as uncertain significance 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: 11
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HGVS dbSNP
NM_000278.5(PAX2):c.1049G>C (p.Ser350Thr)
NM_000278.5(PAX2):c.148C>T (p.Arg50Trp)
NM_000278.5(PAX2):c.511T>C (p.Ser171Pro) rs781489326
NM_003990.5(PAX2):c.1090+233A>T rs606231415
NM_003990.5(PAX2):c.1160G>A (p.Ser387Asn) rs138490772
NM_003990.5(PAX2):c.1A>G (p.Met1Val) rs767150408
NM_003990.5(PAX2):c.272C>T (p.Ala91Val)
NM_003990.5(PAX2):c.350G>C (p.Arg117Pro)
NM_003990.5(PAX2):c.460G>A (p.Ala154Thr)
NM_003990.5(PAX2):c.478G>A (p.Ala160Thr) rs201383632
NM_003990.5(PAX2):c.809G>A (p.Arg270His) rs747639879

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