ClinVar Miner

List of variants in gene PKD1 reported as likely benign by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

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Gene type:
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Total variants: 30
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HGVS dbSNP
NM_000296.3(PKD1):c.9924-9_9924-7delTCC rs892390487
NM_001009944.3(PKD1):c.10325C>T (p.Ala3442Val) rs144593342
NM_001009944.3(PKD1):c.11717G>T (p.Cys3906Phe) rs369291413
NM_001009944.3(PKD1):c.12237C>T (p.Ser4079=) rs372534935
NM_001009944.3(PKD1):c.12826C>T (p.Arg4276Trp) rs114251396
NM_001009944.3(PKD1):c.1304A>G (p.Gln435Arg) rs1426435123
NM_001009944.3(PKD1):c.1515C>T (p.Ala505=) rs748123570
NM_001009944.3(PKD1):c.2870T>C (p.Val957Ala) rs1555457473
NM_001009944.3(PKD1):c.2933A>G (p.Gln978Arg) rs1555457445
NM_001009944.3(PKD1):c.3316C>G (p.Leu1106Val) rs141625744
NM_001009944.3(PKD1):c.4018C>T (p.Arg1340Trp) rs143690392
NM_001009944.3(PKD1):c.4809C>T (p.Ser1603=) rs146103326
NM_001009944.3(PKD1):c.4810G>A (p.Val1604Met) rs191685707
NM_001009944.3(PKD1):c.4856C>T (p.Ser1619Phe) rs146723506
NM_001009944.3(PKD1):c.4917C>T (p.Gly1639=) rs148852027
NM_001009944.3(PKD1):c.5703C>T (p.Pro1901=) rs773475991
NM_001009944.3(PKD1):c.5770G>A (p.Gly1924Ser) rs199947459
NM_001009944.3(PKD1):c.588C>T (p.Ser196=) rs776302294
NM_001009944.3(PKD1):c.6488G>A (p.Arg2163Gln) rs145217118
NM_001009944.3(PKD1):c.6792A>C (p.Ser2264=) rs142928249
NM_001009944.3(PKD1):c.6979C>T (p.Arg2327Trp) rs184394342
NM_001009944.3(PKD1):c.7280C>T (p.Ala2427Val) rs140494005
NM_001009944.3(PKD1):c.739C>T (p.Leu247Phe) rs537409943
NM_001009944.3(PKD1):c.7490-38C>T rs775658891
NM_001009944.3(PKD1):c.7575C>T (p.Phe2525=) rs144409293
NM_001009944.3(PKD1):c.8111C>T (p.Ala2704Val) rs200509641
NM_001009944.3(PKD1):c.8195G>A (p.Arg2732Gln) rs78185588
NM_001009944.3(PKD1):c.8305C>T (p.Leu2769Phe) rs771382752
NM_001009944.3(PKD1):c.9518C>T (p.Pro3173Leu) rs772608027
NM_001009944.3(PKD1):c.9582C>T (p.Ala3194=) rs1399957695

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