ClinVar Miner

List of variants studied for Polycystic kidney disease, adult type by Institute of Human Genetics, Cologne University

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.6838G>A (p.Glu2280Lys) rs375782776 0.00003
NM_001009944.3(PKD1):c.127C>G (p.Pro43Ala) rs1114167365 0.00002
NM_001009944.3(PKD1):c.5986G>A (p.Val1996Met) rs1114167373 0.00001
NM_001009944.3(PKD1):c.7286T>G (p.Met2429Arg) rs1430979320 0.00001
NM_001009944.3(PKD1):c.10220+2_10220+3del rs1114167366
NM_001009944.3(PKD1):c.11453del (p.Gly3818fs) rs1567153194
NM_001009944.3(PKD1):c.11858T>C (p.Leu3953Pro) rs1596476599
NM_001009944.3(PKD1):c.11900_11925delinsAAGCTAGTGA (p.Val3967fs) rs886040959
NM_001009944.3(PKD1):c.218A>G (p.Asp73Gly) rs2151826654
NM_001009944.3(PKD1):c.3218del (p.Glu1073fs)
NM_001009944.3(PKD1):c.3503dup (p.Val1169fs) rs1555456661
NM_001009944.3(PKD1):c.4165_4166del (p.Arg1389fs) rs1555456208
NM_001009944.3(PKD1):c.5021del (p.Pro1674fs) rs1555455453
NM_001009944.3(PKD1):c.5627C>G (p.Ser1876Ter) rs1567196052
NM_001009944.3(PKD1):c.696T>G (p.Cys232Trp) rs1114167370
NM_001009944.3(PKD1):c.7268C>A (p.Ser2423Tyr) rs1555453207
NM_001009944.3(PKD1):c.8005del (p.Ala2669fs) rs1596536546
NM_001009944.3(PKD1):c.8704C>T (p.Gln2902Ter) rs1555450968
NM_001009944.3(PKD1):c.9575G>T (p.Ser3192Ile) rs2092040135
NM_001009944.3(PKD1):c.9637T>A (p.Phe3213Ile) rs2151740841

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