ClinVar Miner

List of variants in gene PKD1 reported as likely pathogenic by Blueprint Genetics

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Gene type:
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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.4447C>T (p.Gln1483Ter) rs1567200098 0.00003
NM_001009944.3(PKD1):c.10247del (p.Gly3416fs) rs1596501702
NM_001009944.3(PKD1):c.10377C>G (p.Tyr3459Ter) rs1596501163
NM_001009944.3(PKD1):c.10821+1del rs1596488828
NM_001009944.3(PKD1):c.1097C>A (p.Ser366Ter) rs752356523
NM_001009944.3(PKD1):c.11122G>T (p.Glu3708Ter) rs1596485816
NM_001009944.3(PKD1):c.11390A>G (p.Tyr3797Cys) rs138629093
NM_001009944.3(PKD1):c.11412-2dup rs1596481858
NM_001009944.3(PKD1):c.11482GAG[1] (p.Glu3829del) rs1596481630
NM_001009944.3(PKD1):c.11563dup (p.Thr3855fs) rs1596480400
NM_001009944.3(PKD1):c.11921_11942dup (p.Ala3981_Gln3982insHisTer) rs1596476300
NM_001009944.3(PKD1):c.1202-9G>A rs1596588606
NM_001009944.3(PKD1):c.12044_12068del (p.Phe4015fs) rs1596475245
NM_001009944.3(PKD1):c.12166_12167del (p.Trp4056fs) rs1596474115
NM_001009944.3(PKD1):c.12344dup (p.Glu4116fs) rs1596473434
NM_001009944.3(PKD1):c.12676_12693del (p.Phe4226_Gln4231del) rs1596471581
NM_001009944.3(PKD1):c.12701_12702del (p.Glu4234fs) rs1596471547
NM_001009944.3(PKD1):c.1295C>T (p.Ala432Val) rs1060499699
NM_001009944.3(PKD1):c.2012C>G (p.Ser671Ter) rs779227133
NM_001009944.3(PKD1):c.2618_2621del (p.Val873fs) rs1596575646
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg) rs747362311
NM_001009944.3(PKD1):c.412C>T (p.Arg138Ter) rs1596591955
NM_001009944.3(PKD1):c.4551C>A (p.Tyr1517Ter) rs1238351274
NM_001009944.3(PKD1):c.5279G>A (p.Trp1760Ter) rs1596555896
NM_001009944.3(PKD1):c.5411del (p.Gly1804fs) rs1596555413
NM_001009944.3(PKD1):c.6394TTC[1] (p.Phe2133del) rs1555454460
NM_001009944.3(PKD1):c.6752_6754del (p.Val2251del) rs1596550396
NM_001009944.3(PKD1):c.7587G>C (p.Lys2529Asn) rs139652960
NM_001009944.3(PKD1):c.7856T>G (p.Leu2619Arg) rs1596538804
NM_001009944.3(PKD1):c.7984C>T (p.Gln2662Ter) rs757768731
NM_001009944.3(PKD1):c.8016+2T>C rs1596536505
NM_001009944.3(PKD1):c.8284_8295del (p.Ile2762_Arg2765del) rs1596527370
NM_001009944.3(PKD1):c.8933T>C (p.Phe2978Ser) rs1596523677
NM_001009944.3(PKD1):c.8973C>A (p.Tyr2991Ter) rs1596522636
NM_001009944.3(PKD1):c.9298C>T (p.Gln3100Ter) rs1596520985
NM_001009944.3(PKD1):c.9431G>C (p.Gly3144Ala) rs1596515137
NM_001009944.3(PKD1):c.9826_9829del (p.Thr3276fs) rs1596512729

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