ClinVar Miner

List of variants in gene PKD1 reported as pathogenic by Department of Pathology and Laboratory Medicine,Sinai Health System

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Total variants: 17
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HGVS dbSNP
NC_000016.9:g.(?_2149645)_(2158700_?)del
NC_000016.9:g.(?_2152062)_(2152634_?)del
NM_001009944.2(PKD1):c.11798_11810del (p.Leu3933Argfs) rs1555445192
NM_001009944.2(PKD1):c.12010C>T (p.Gln4004Ter) rs766551411
NM_001009944.2(PKD1):c.12514delT (p.Ser4172Profs) rs1555444225
NM_001009944.2(PKD1):c.1583A>G (p.Tyr528Cys) rs750798165
NM_001009944.2(PKD1):c.2215C>T (p.Gln739Ter) rs747483368
NM_001009944.2(PKD1):c.4461delC (p.Ser1488Leufs) rs1555455998
NM_001009944.2(PKD1):c.6199C>T (p.Gln2067Ter) rs1555454604
NM_001009944.2(PKD1):c.6307C>T (p.Gln2103Ter) rs1555454512
NM_001009944.2(PKD1):c.6487C>T (p.Arg2163Ter) rs1555454411
NM_001009944.2(PKD1):c.6994_7000dup (p.Val2334Glyfs) rs1555453872
NM_001009944.2(PKD1):c.7137C>G (p.Tyr2379Ter) rs752114168
NM_001009944.2(PKD1):c.7174delC (p.Arg2392Alafs) rs1555453360
NM_001009944.2(PKD1):c.8095C>T (p.Gln2699Ter) rs1222094213
NM_001009944.2(PKD1):c.8545delG (p.Ala2849Profs) rs1555451093
NM_001009944.2(PKD1):c.9074_9076delGGCinsA (p.Trp3025Terfs) rs1555450424

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