ClinVar Miner

List of variants in gene PKHD1 reported by Blueprint Genetics

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Gene type:
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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu) rs150046042 0.00070
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter) rs137852949 0.00066
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu) rs150838488 0.00057
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_138694.4(PKHD1):c.9154G>T (p.Asp3052Tyr) rs765526 0.00048
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145 0.00044
NM_138694.4(PKHD1):c.10412T>G (p.Val3471Gly) rs137852950 0.00009
NM_138694.4(PKHD1):c.2444A>G (p.Gln815Arg) rs145789167 0.00009
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690 0.00008
NM_138694.4(PKHD1):c.1576A>G (p.Ile526Val) rs142608481 0.00007
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp) rs180675584 0.00006
NM_138694.4(PKHD1):c.8518C>T (p.Arg2840Cys) rs200432861 0.00006
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter) rs398124478 0.00004
NM_138694.4(PKHD1):c.3089C>T (p.Ala1030Val) rs777976050 0.00004
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu) rs367707903 0.00004
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala) rs199568593 0.00002
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg) rs773136605 0.00002
NM_138694.4(PKHD1):c.390+1G>T rs752327566 0.00002
NM_138694.4(PKHD1):c.6948G>A (p.Met2316Ile) rs1402541240 0.00002
NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg) rs777377414 0.00001
NM_138694.4(PKHD1):c.2864T>G (p.Phe955Cys) rs777158800 0.00001
NM_138694.4(PKHD1):c.5944G>A (p.Glu1982Lys) rs760283175 0.00001
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys) rs752994816 0.00001
NM_138694.4(PKHD1):c.10145del (p.Phe3382fs) rs759439479
NM_138694.4(PKHD1):c.10658T>A (p.Ile3553Asn) rs137852948
NM_138694.4(PKHD1):c.1116C>G (p.Phe372Leu) rs1582038191
NM_138694.4(PKHD1):c.11175-12T>C rs1424171216
NM_138694.4(PKHD1):c.1378G>A (p.Gly460Arg) rs1582012670
NM_138694.4(PKHD1):c.1463G>C (p.Arg488Pro) rs186202437
NM_138694.4(PKHD1):c.2279+5G>A rs1581955260
NM_138694.4(PKHD1):c.3122G>A (p.Gly1041Asp) rs794727466
NM_138694.4(PKHD1):c.3529T>C (p.Ser1177Pro) rs1581827273
NM_138694.4(PKHD1):c.3539G>A (p.Gly1180Glu) rs1581827172
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs) rs1057517273
NM_138694.4(PKHD1):c.3958_3959del (p.Gly1320fs) rs1581811762
NM_138694.4(PKHD1):c.4330C>T (p.Gln1444Ter) rs1581808463
NM_138694.4(PKHD1):c.4439T>A (p.Ile1480Lys) rs1581807447
NM_138694.4(PKHD1):c.446C>T (p.Pro149Leu) rs1582123954
NM_138694.4(PKHD1):c.5405T>C (p.Leu1802Pro) rs1581764890
NM_138694.4(PKHD1):c.6872C>T (p.Ser2291Leu) rs376444914
NM_138694.4(PKHD1):c.7109+3A>C rs1583202788
NM_138694.4(PKHD1):c.778+1G>C rs753471298
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter) rs398124498

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