ClinVar Miner

List of variants in gene PKD1 reported as uncertain significance by Mayo Clinic Laboratories, Mayo Clinic

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.11675G>A (p.Arg3892His) rs748887038 0.00036
NM_001009944.3(PKD1):c.6395T>G (p.Phe2132Cys) rs150154235 0.00020
NM_001009944.3(PKD1):c.5704G>A (p.Gly1902Arg) rs370479407 0.00011
NM_001009944.3(PKD1):c.880A>G (p.Ile294Val) rs780058314 0.00005
NM_001009944.3(PKD1):c.2222C>T (p.Pro741Leu) rs779605081 0.00003
NM_001009944.3(PKD1):c.3107C>T (p.Thr1036Met) rs532455378 0.00002
NM_001009944.3(PKD1):c.9233T>C (p.Met3078Thr) rs879544330 0.00002
NM_001009944.3(PKD1):c.7301G>A (p.Arg2434Gln) rs1378061755 0.00001
NM_001009944.3(PKD1):c.10105A>G (p.Ser3369Gly)
NM_001009944.3(PKD1):c.10285A>G (p.Ile3429Val) rs371881043
NM_001009944.3(PKD1):c.11696T>C (p.Leu3899Pro)
NM_001009944.3(PKD1):c.11771G>A (p.Arg3924Lys)
NM_001009944.3(PKD1):c.11948T>C (p.Leu3983Pro)
NM_001009944.3(PKD1):c.1325C>T (p.Ala442Val) rs1596588261
NM_001009944.3(PKD1):c.1578C>G (p.His526Gln)
NM_001009944.3(PKD1):c.1900A>G (p.Thr634Ala)
NM_001009944.3(PKD1):c.2803C>T (p.Leu935Phe)
NM_001009944.3(PKD1):c.3347A>T (p.Gln1116Leu) rs778900144
NM_001009944.3(PKD1):c.3785A>G (p.His1262Arg) rs1057518976
NM_001009944.3(PKD1):c.3860T>C (p.Leu1287Pro) rs2544827223
NM_001009944.3(PKD1):c.4515_4517del (p.Gly1506del) rs2544821047
NM_001009944.3(PKD1):c.4598T>A (p.Val1533Glu)
NM_001009944.3(PKD1):c.5448C>G (p.Phe1816Leu)
NM_001009944.3(PKD1):c.6293A>T (p.Asp2098Val)
NM_001009944.3(PKD1):c.6421G>A (p.Val2141Ile)
NM_001009944.3(PKD1):c.6422T>A (p.Val2141Asp) rs2544803160
NM_001009944.3(PKD1):c.6532T>C (p.Cys2178Arg) rs1358817073
NM_001009944.3(PKD1):c.6656C>T (p.Pro2219Leu) rs1567191874
NM_001009944.3(PKD1):c.6799G>A (p.Val2267Met)
NM_001009944.3(PKD1):c.7049A>C (p.Glu2350Ala) rs542108813
NM_001009944.3(PKD1):c.7065+5G>C rs2544795023
NM_001009944.3(PKD1):c.7555C>G (p.Gln2519Glu)
NM_001009944.3(PKD1):c.7694C>T (p.Ala2565Val)
NM_001009944.3(PKD1):c.782G>A (p.Gly261Asp)
NM_001009944.3(PKD1):c.7916G>A (p.Arg2639Gln)
NM_001009944.3(PKD1):c.8672CCAACTCCG[1] (p.2891ANS[1]) rs763199524
NM_001009944.3(PKD1):c.9113C>G (p.Pro3038Arg)
NM_001009944.3(PKD1):c.9157G>A (p.Ala3053Thr) rs200360336
NM_001009944.3(PKD1):c.9559G>A (p.Asp3187Asn)

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