ClinVar Miner

List of variants in gene PKD1 reported by Clinical Genetics Laboratory, Skane University Hospital Lund

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Gene type:
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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.7241C>T (p.Thr2414Met) rs201267349 0.00015
NM_001009944.3(PKD1):c.10315C>T (p.Arg3439Trp) rs374486955 0.00012
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100 0.00001
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs) rs1555455457 0.00001
NM_001009944.3(PKD1):c.10698GGCTGT[2] (p.3567AV[2]) rs777460677
NM_001009944.3(PKD1):c.10729_10732dup (p.Ala3578fs)
NM_001009944.3(PKD1):c.11028_11035dup (p.Leu3679fs)
NM_001009944.3(PKD1):c.11064C>G (p.Ser3688Arg)
NM_001009944.3(PKD1):c.11157-3C>G
NM_001009944.3(PKD1):c.1201+1G>A rs1596588978
NM_001009944.3(PKD1):c.1202-9G>A rs1596588606
NM_001009944.3(PKD1):c.12031C>T (p.Gln4011Ter) rs1555444985
NM_001009944.3(PKD1):c.12164T>C (p.Leu4055Pro)
NM_001009944.3(PKD1):c.12554C>A (p.Ser4185Ter)
NM_001009944.3(PKD1):c.1543G>T (p.Gly515Trp) rs1555458704
NM_001009944.3(PKD1):c.1547G>A (p.Trp516Ter)
NM_001009944.3(PKD1):c.2069T>A (p.Val690Asp)
NM_001009944.3(PKD1):c.2726T>G (p.Val909Gly)
NM_001009944.3(PKD1):c.3649G>A (p.Val1217Met)
NM_001009944.3(PKD1):c.3746A>T (p.Asp1249Val)
NM_001009944.3(PKD1):c.4048A>C (p.Thr1350Pro)
NM_001009944.3(PKD1):c.5159G>A (p.Trp1720Ter) rs2151794620
NM_001009944.3(PKD1):c.529+5G>A rs2544882689
NM_001009944.3(PKD1):c.5923C>T (p.Gln1975Ter) rs2092439541
NM_001009944.3(PKD1):c.6380C>G (p.Ser2127Cys)
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter) rs1555454411
NM_001009944.3(PKD1):c.6574_6580del (p.Thr2192fs) rs2092420672
NM_001009944.3(PKD1):c.8470C>T (p.Gln2824Ter) rs2092196354
NM_001009944.3(PKD1):c.856_862del (p.Ser286_Gly287insTer) rs1555459108
NM_001009944.3(PKD1):c.8734dup (p.Asp2912fs)
NM_001009944.3(PKD1):c.9856CTC[1] (p.Leu3287del) rs2092020811

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