ClinVar Miner

List of variants reported as pathogenic for Autosomal recessive polycystic kidney disease by Department of Pathology and Laboratory Medicine,Sinai Health System

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Total variants: 24
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HGVS dbSNP
NM_000297.4(PKD2):c.1094+3_1094+6del rs1553925470
NM_000297.4(PKD2):c.670del (p.Leu224fs) rs1553924173
NM_001009944.2:c.6468-?_10050+?del
NM_001009944.2:c.8949-?_9397+?del
NM_001009944.3(PKD1):c.10698_10703GGCTGT[2] (p.3567_3568AV[2]) rs777460677
NM_001009944.3(PKD1):c.11461C>T (p.Gln3821Ter) rs1325300747
NM_001009944.3(PKD1):c.11798_11810del (p.Leu3933fs) rs1555445192
NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter) rs766551411
NM_001009944.3(PKD1):c.12445-2A>C rs1555444334
NM_001009944.3(PKD1):c.12514del (p.Ser4172fs) rs1555444225
NM_001009944.3(PKD1):c.1583A>G (p.Tyr528Cys) rs750798165
NM_001009944.3(PKD1):c.2215C>T (p.Arg739Trp) rs747483368
NM_001009944.3(PKD1):c.4461del (p.Ser1488fs) rs1555455998
NM_001009944.3(PKD1):c.6199C>T (p.Gln2067Ter) rs1555454604
NM_001009944.3(PKD1):c.6307C>T (p.Gln2103Ter) rs1555454512
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter) rs1555454411
NM_001009944.3(PKD1):c.6987_6993GCTGGCG[3] (p.Val2334fs) rs1555453872
NM_001009944.3(PKD1):c.7137C>G (p.Tyr2379Ter) rs752114168
NM_001009944.3(PKD1):c.7174del (p.Arg2392fs) rs1555453360
NM_001009944.3(PKD1):c.8095C>T (p.Gln2699Ter) rs1222094213
NM_001009944.3(PKD1):c.8545del (p.Ala2849fs) rs1555451093
NM_001009944.3(PKD1):c.9074_9076delinsA (p.Trp3025_Arg3026delinsTer) rs1555450424
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly) rs1210846081
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261

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