ClinVar Miner

List of variants in gene PAX2 studied for abdominal and pelvic region disorder

Included ClinVar conditions (902):
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Gene type:
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Total variants: 28
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HGVS dbSNP
NM_000278.3(PAX2):c.221_226dupAGACCG (p.Thr75_Gly76insGluThr) rs387906530
NM_003990.4(PAX2):c.213-1_225del rs1057518761
NM_003990.5(PAX2):c.1023C>A (p.Tyr341Ter) rs78122364
NM_003990.5(PAX2):c.1090+233A>T rs606231415
NM_003990.5(PAX2):c.1160G>A (p.Ser387Asn) rs138490772
NM_003990.5(PAX2):c.131_152del (p.Leu44fs) rs76675173
NM_003990.5(PAX2):c.167G>A (p.Arg56Gln) rs587777708
NM_003990.5(PAX2):c.1A>G (p.Met1Val) rs767150408
NM_003990.5(PAX2):c.220del (p.Glu74fs)
NM_003990.5(PAX2):c.226G>A (p.Gly76Ser) rs79555199
NM_003990.5(PAX2):c.239C>T (p.Pro80Leu) rs1554856032
NM_003990.5(PAX2):c.272C>T (p.Ala91Val)
NM_003990.5(PAX2):c.350G>C (p.Arg117Pro)
NM_003990.5(PAX2):c.360C>T (p.Ala120=) rs41291450
NM_003990.5(PAX2):c.43+10G>C rs4472867
NM_003990.5(PAX2):c.460G>A (p.Ala154Thr)
NM_003990.5(PAX2):c.478G>A (p.Ala160Thr)
NM_003990.5(PAX2):c.511T>C (p.Ser171Pro) rs781489326
NM_003990.5(PAX2):c.561del (p.Asn188fs) rs77777862
NM_003990.5(PAX2):c.565G>A (p.Gly189Arg) rs1131692055
NM_003990.5(PAX2):c.75_76dup (p.Val26fs) rs75462234
NM_003990.5(PAX2):c.76del (p.Val26fs) rs75462234
NM_003990.5(PAX2):c.76dup (p.Val26fs) rs75462234
NM_003990.5(PAX2):c.775C>T (p.Gln259Ter) rs75399846
NM_003990.5(PAX2):c.809G>A (p.Arg270His) rs747639879
NM_003990.5(PAX2):c.936C>G (p.Asn312Lys) rs199724772
NM_003990.5(PAX2):c.978A>C (p.Pro326=) rs1800898
PAX2, 6-BP DEL

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