ClinVar Miner

List of variants reported as likely pathogenic for Polycystic kidney disease, adult type by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.10810G>A (p.Glu3604Lys) rs2091722550
NM_001009944.3(PKD1):c.10822-3C>G
NM_001009944.3(PKD1):c.11017-25A>G
NM_001009944.3(PKD1):c.11258G>A (p.Arg3753Gln) rs1555446330
NM_001009944.3(PKD1):c.1396G>A (p.Val466Met) rs2855341
NM_001009944.3(PKD1):c.3162-1G>C
NM_001009944.3(PKD1):c.4507G>A (p.Gly1503Arg) rs2092478372
NM_001009944.3(PKD1):c.9100GAG[1] (p.Glu3035del)
NM_001009944.3(PKD1):c.9559G>T (p.Asp3187Tyr)
NM_001009944.3(PKD1):c.9559_9561del (p.Asp3187del)

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