ClinVar Miner

List of variants in gene PKHD1 studied for Polycystic kidney disease

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Total variants: 9
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HGVS dbSNP
NM_138694.4(PKHD1):c.1032_1033del (p.Glu345fs) rs1446729264
NM_138694.4(PKHD1):c.10797C>T (p.His3599=) rs577357613
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu) rs758352210
NM_138694.4(PKHD1):c.2232C>T (p.Thr744=) rs1443176251
NM_138694.4(PKHD1):c.3368G>A (p.Gly1123Asp) rs148356158
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu) rs367707903
NM_138694.4(PKHD1):c.5059A>G (p.Ile1687Val) rs749029593
NM_138694.4(PKHD1):c.7734-4_7736delinsCTAGAGT rs1583055258
NM_138694.4(PKHD1):c.9237G>A (p.Ala3079=) rs765525

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