ClinVar Miner

List of variants in gene PKD2 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000297.4(PKD2):c.*1120C>T rs116540621 0.00805
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu) rs2234917 0.00481
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn) rs145343957 0.00280
NM_000297.4(PKD2):c.*1113G>A rs541524392 0.00232
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys) rs75762896 0.00176
NM_000297.4(PKD2):c.*552G>A rs139787413 0.00123
NM_000297.4(PKD2):c.1830G>A (p.Ala610=) rs144968710 0.00091
NM_000297.4(PKD2):c.784G>A (p.Val262Met) rs138132026 0.00078
NM_000297.4(PKD2):c.1873G>A (p.Asp625Asn) rs757573744 0.00005
NM_000297.4(PKD2):c.2792C>T (p.Thr931Met) rs368926162 0.00004
NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter) rs1578130676 0.00001
NM_000297.4(PKD2):c.2139C>T (p.Val713=) rs200707583 0.00001
NM_000297.4(PKD2):c.973C>T (p.Arg325Ter) rs1060503526 0.00001
NM_000297.4(PKD2):c.1320G>T (p.Arg440Ser) rs886041114
NM_000297.4(PKD2):c.1345G>C (p.Gly449Arg) rs1727783547
NM_000297.4(PKD2):c.1548G>A (p.Val516=)
NM_000297.4(PKD2):c.1549-1G>A rs1720121027
NM_000297.4(PKD2):c.1760C>T (p.Ser587Leu)
NM_000297.4(PKD2):c.2240+1G>C rs1553927783
NM_000297.4(PKD2):c.2461G>A (p.Gly821Arg)
NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter) rs755226061
NM_000297.4(PKD2):c.2819G>A (p.Arg940His) rs756158263
NM_000297.4(PKD2):c.710-4539T>C

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