ClinVar Miner

List of variants reported as likely pathogenic for Polycystic kidney disease, adult type by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397 0.00495
NC_000016.9:g.2155486_2155487ins2145304_2155487inv
NM_001009944.3(PKD1):c.11017-47_11022del rs2091672168
NM_001009944.3(PKD1):c.11048dup (p.Thr3684fs) rs1596485991
NM_001009944.3(PKD1):c.11078C>A (p.Ser3693Ter) rs745912756
NM_001009944.3(PKD1):c.11305_11306del (p.Thr3769fs) rs1555446053
NM_001009944.3(PKD1):c.11367_11368del (p.His3789fs) rs2091616873
NM_001009944.3(PKD1):c.11375C>A (p.Ser3792Ter) rs770667157
NM_001009944.3(PKD1):c.11563_11564del (p.Thr3855fs) rs1555445585
NM_001009944.3(PKD1):c.1261C>T (p.Arg421Cys) rs1567216536
NM_001009944.3(PKD1):c.1295C>A (p.Ala432Glu) rs1060499699
NM_001009944.3(PKD1):c.2667dup (p.Asn890fs) rs2092593686
NM_001009944.3(PKD1):c.2861del (p.Ser954fs) rs1555457482
NM_001009944.3(PKD1):c.3262_3263insT (p.Glu1088fs) rs1596566156
NM_001009944.3(PKD1):c.3436T>G (p.Phe1146Val) rs1555456744
NM_001009944.3(PKD1):c.488G>T (p.Gly163Val) rs1282205691
NM_001009944.3(PKD1):c.5855dup (p.Lys1953fs) rs1555454886
NM_001009944.3(PKD1):c.6197T>C (p.Leu2066Pro) rs1555454606
NM_001009944.3(PKD1):c.641G>A (p.Cys214Tyr) rs1596590574
NM_001009944.3(PKD1):c.6683A>G (p.Tyr2228Cys) rs1596550613
NM_001009944.3(PKD1):c.8203_8204del (p.Gln2735fs) rs1596527744
NM_001009944.3(PKD1):c.8762A>G (p.His2921Arg) rs1555450920
NM_001009944.3(PKD1):c.896_897del (p.Pro299fs) rs1555459084
NM_001009944.3(PKD1):c.9415G>A (p.Gly3139Ser) rs1165123201
NM_001009944.3(PKD1):c.9455_9516dup (p.Pro3173fs) rs1596514864
NM_001009944.3(PKD1):c.9568G>T (p.Gly3190Trp) rs1060499704
NM_001009944.3(PKD1):c.9755_9757del (p.Glu3252_Leu3253delinsVal) rs1057516202
NM_001009944.3(PKD1):c.9788G>C (p.Trp3263Ser) rs1555449378

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