ClinVar Miner

List of variants in gene PKHD1 reported by GeneDx

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Total variants: 25
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HGVS dbSNP
NM_138694.3(PKHD1):c.10219C>T (p.Gln3407Ter) rs781368899
NM_138694.3(PKHD1):c.10637delT (p.Val3546Alafs) rs770461067
NM_138694.3(PKHD1):c.107C>T (p.Thr36Met) rs137852944
NM_138694.3(PKHD1):c.10998delT (p.Ile3666Metfs) rs1554183097
NM_138694.3(PKHD1):c.12027C>G (p.Tyr4009Ter) rs143616240
NM_138694.3(PKHD1):c.1505A>T (p.Glu502Val) rs767695967
NM_138694.3(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643
NM_138694.3(PKHD1):c.2141-4C>G rs1042054004
NM_138694.3(PKHD1):c.2299_2306delACAGAAGAinsTCTG (p.Thr767Serfs) rs1064796287
NM_138694.3(PKHD1):c.4141delG (p.Val1381Cysfs) rs778537772
NM_138694.3(PKHD1):c.4257G>A (p.Arg1419=) rs577832997
NM_138694.3(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019
NM_138694.3(PKHD1):c.5060T>C (p.Ile1687Thr) rs794727566
NM_138694.3(PKHD1):c.5125C>T (p.Leu1709Phe) rs45517932
NM_138694.3(PKHD1):c.5134G>A (p.Gly1712Arg) rs141103838
NM_138694.3(PKHD1):c.5768A>T (p.Gln1923Leu) rs150838488
NM_138694.3(PKHD1):c.6512A>G (p.Tyr2171Cys) rs1554132731
NM_138694.3(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145
NM_138694.3(PKHD1):c.8068T>C (p.Trp2690Arg) rs886061616
NM_138694.3(PKHD1):c.8555-2A>C rs1020621286
NM_138694.3(PKHD1):c.8870T>C (p.Ile2957Thr) rs760222236
NM_138694.3(PKHD1):c.9296C>A (p.Ser3099Ter) rs757946548
NM_138694.3(PKHD1):c.9585A>C (p.Lys3195Asn) rs1417442108
NM_138694.3(PKHD1):c.9866G>T (p.Ser3289Ile) rs148932323
NM_138694.3(PKHD1):c.9998G>A (p.Arg3333Lys) rs1057524563

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