ClinVar Miner

List of variants in gene PKHD1 reported by Genome Diagnostics Laboratory, University Medical Center Utrecht

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Gene type:
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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser) rs62406032 0.05010
NM_138694.4(PKHD1):c.11714T>A (p.Ile3905Asn) rs2661488 0.04490
NM_138694.4(PKHD1):c.11340T>C (p.Pro3780=) rs17667728 0.03744
NM_138694.4(PKHD1):c.5896C>T (p.Leu1966=) rs1266923 0.03202
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met) rs45500692 0.02436
NM_138694.4(PKHD1):c.9577G>A (p.Val3193Ile) rs35445653 0.01835
NM_138694.4(PKHD1):c.11174+11A>G rs115072237 0.01349
NM_138694.4(PKHD1):c.11878G>A (p.Val3960Ile) rs34548196 0.01161
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726 0.00885
NM_138694.4(PKHD1):c.10515C>A (p.Ser3505Arg) rs139014478 0.00721
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr) rs45503297 0.00407
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly) rs150925674 0.00340
NM_138694.4(PKHD1):c.1950G>A (p.Arg650=) rs143226202 0.00257
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=) rs139815340 0.00230
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255 0.00223
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu) rs142526715 0.00145
NM_138694.4(PKHD1):c.11338C>T (p.Pro3780Ser) rs41273722 0.00140
NM_138694.4(PKHD1):c.3537T>C (p.Asn1179=) rs141574387 0.00135
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=) rs138388301 0.00105
NM_138694.4(PKHD1):c.5478G>A (p.Ala1826=) rs137925439 0.00102
NM_138694.4(PKHD1):c.7912-5T>G rs371510537 0.00075
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val) rs139306706 0.00073
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu) rs150046042 0.00070
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_138694.4(PKHD1):c.9363T>C (p.Asn3121=) rs183674012 0.00048
NM_138694.4(PKHD1):c.1234-9T>C rs200707468 0.00038
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) rs201105958 0.00009
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter) rs398124478 0.00004
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter) rs781368899 0.00001
NM_138694.4(PKHD1):c.11525G>T (p.Arg3842Leu) rs76572975
NM_138694.4(PKHD1):c.779-25dup rs5876252
NM_138694.4(PKHD1):c.8302+2T>C rs2151510946

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