ClinVar Miner

List of variants in gene UPK3A studied for abdominal and pelvic region disorder

Included ClinVar conditions (902):
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Gene type:
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Total variants: 27
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HGVS dbSNP
NM_006953.4(UPK3A):c.*107T>C rs558490093
NM_006953.4(UPK3A):c.*26C>T rs570266965
NM_006953.4(UPK3A):c.*42C>T rs746035232
NM_006953.4(UPK3A):c.-25G>C rs116162068
NM_006953.4(UPK3A):c.-26C>G rs768663033
NM_006953.4(UPK3A):c.202G>A (p.Asp68Asn) rs145186308
NM_006953.4(UPK3A):c.209-11C>T rs201838809
NM_006953.4(UPK3A):c.259T>G (p.Ser87Ala) rs145106685
NM_006953.4(UPK3A):c.260C>A (p.Ser87Ter) rs138918236
NM_006953.4(UPK3A):c.332G>A (p.Ser111Asn) rs765876533
NM_006953.4(UPK3A):c.402C>T (p.Val134=) rs2673088
NM_006953.4(UPK3A):c.404G>A (p.Arg135Lys) rs147406393
NM_006953.4(UPK3A):c.418G>A (p.Gly140Arg) rs139626522
NM_006953.4(UPK3A):c.460G>C (p.Ala154Pro) rs1057353
NM_006953.4(UPK3A):c.465C>T (p.Pro155=) rs62001037
NM_006953.4(UPK3A):c.470C>T (p.Ser157Leu) rs200941092
NM_006953.4(UPK3A):c.545G>A (p.Trp182Ter) rs147609981
NM_006953.4(UPK3A):c.549A>G (p.Ser183=) rs1135360
NM_006953.4(UPK3A):c.560G>A (p.Arg187His) rs140649681
NM_006953.4(UPK3A):c.588G>A (p.Thr196=) rs115882180
NM_006953.4(UPK3A):c.605G>A (p.Gly202Asp) rs121918187
NM_006953.4(UPK3A):c.704+8C>A rs112177270
NM_006953.4(UPK3A):c.731C>T (p.Thr244Met) rs374008042
NM_006953.4(UPK3A):c.802T>C (p.Ser268Pro) rs886057606
NM_006953.4(UPK3A):c.818C>T (p.Pro273Leu) rs121918186
NM_006953.4(UPK3A):c.858A>G (p.Gln286=) rs1057356
NM_006953.4(UPK3A):c.90C>T (p.Phe30=) rs199656309

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