ClinVar Miner

List of variants in gene PKHD1 reported as likely benign by PreventionGenetics

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Gene type:
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Total variants: 38
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HGVS dbSNP
NM_138694.4(PKHD1):c.10331T>C (p.Val3444Ala) rs763589152
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln) rs145184792
NM_138694.4(PKHD1):c.10746A>G (p.Glu3582=) rs886038724
NM_138694.4(PKHD1):c.11338C>T (p.Pro3780Ser) rs41273722
NM_138694.4(PKHD1):c.130+9G>A rs367608402
NM_138694.4(PKHD1):c.1875G>T (p.Leu625=) rs886038725
NM_138694.4(PKHD1):c.1950G>A (p.Arg650=) rs143226202
NM_138694.4(PKHD1):c.1964+17G>T rs201349527
NM_138694.4(PKHD1):c.1964+22G>A rs375534282
NM_138694.4(PKHD1):c.2243C>T (p.Ala748Val) rs141622697
NM_138694.4(PKHD1):c.2279+13T>G rs188914598
NM_138694.4(PKHD1):c.2407+37A>T rs115353478
NM_138694.4(PKHD1):c.2822-40G>A rs768953527
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=) rs139815340
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726
NM_138694.4(PKHD1):c.3561-47A>G rs754131274
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=) rs138388301
NM_138694.4(PKHD1):c.390+26A>G rs377684807
NM_138694.4(PKHD1):c.448+31T>C rs760979377
NM_138694.4(PKHD1):c.4920A>G (p.Val1640=) rs142465959
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe) rs45517932
NM_138694.4(PKHD1):c.5236+31_5236+34del rs547420704
NM_138694.4(PKHD1):c.6184C>T (p.Leu2062=) rs116156469
NM_138694.4(PKHD1):c.6211A>C (p.Asn2071His) rs143832120
NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile) rs147487242
NM_138694.4(PKHD1):c.6332+22A>G rs372657563
NM_138694.4(PKHD1):c.6774A>C (p.Val2258=) rs34796823
NM_138694.4(PKHD1):c.7733+43G>A rs141811489
NM_138694.4(PKHD1):c.7734-27dup rs201176305
NM_138694.4(PKHD1):c.779-9C>T rs886038726
NM_138694.4(PKHD1):c.7873T>C (p.Leu2625=) rs140033417
NM_138694.4(PKHD1):c.8022G>T (p.Leu2674=) rs755688912
NM_138694.4(PKHD1):c.8173+12C>T rs368093611
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly) rs150925674
NM_138694.4(PKHD1):c.880+42A>G rs754400707
NM_138694.4(PKHD1):c.8950+44A>G rs58823342
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val) rs139306706
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr) rs45503297

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