ClinVar Miner

List of variants in gene PKHD1 reported as uncertain significance by Revvity Omics, Revvity

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Gene type:
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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764 0.00024
NM_138694.4(PKHD1):c.3851C>T (p.Pro1284Leu) rs139838478 0.00020
NM_138694.4(PKHD1):c.3241C>T (p.Arg1081Cys) rs200986136 0.00018
NM_138694.4(PKHD1):c.12110T>C (p.Leu4037Pro) rs199900211 0.00015
NM_138694.4(PKHD1):c.10744G>A (p.Glu3582Lys) rs148300854 0.00013
NM_138694.4(PKHD1):c.1201C>A (p.His401Asn) rs192769565 0.00013
NM_138694.4(PKHD1):c.7091T>A (p.Ile2364Asn) rs76260483 0.00011
NM_138694.4(PKHD1):c.1565C>T (p.Ser522Phe) rs746561147 0.00009
NM_138694.4(PKHD1):c.9629C>G (p.Ser3210Cys) rs141081295 0.00006
NM_138694.4(PKHD1):c.1913T>C (p.Met638Thr) rs181546197 0.00003
NM_138694.4(PKHD1):c.2726G>A (p.Arg909Gln) rs201753421 0.00002
NM_138694.4(PKHD1):c.11786-3C>A rs746467881 0.00001
NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys) rs794727366 0.00001
NM_138694.4(PKHD1):c.10436A>G (p.Gln3479Arg)
NM_138694.4(PKHD1):c.10932G>T (p.Met3644Ile)
NM_138694.4(PKHD1):c.11075G>A (p.Arg3692Gln)
NM_138694.4(PKHD1):c.11347C>G (p.Pro3783Ala)
NM_138694.4(PKHD1):c.11840T>C (p.Met3947Thr)
NM_138694.4(PKHD1):c.1231A>G (p.Lys411Glu)
NM_138694.4(PKHD1):c.1747T>A (p.Cys583Ser)
NM_138694.4(PKHD1):c.1900G>A (p.Gly634Ser)
NM_138694.4(PKHD1):c.2990T>A (p.Met997Lys) rs2128182593
NM_138694.4(PKHD1):c.3060A>G (p.Arg1020=)
NM_138694.4(PKHD1):c.3734C>T (p.Ala1245Val) rs140815495
NM_138694.4(PKHD1):c.528-17dup rs753686281
NM_138694.4(PKHD1):c.5751G>A (p.Gln1917=) rs398124489
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly) rs1210846081
NM_138694.4(PKHD1):c.5903T>G (p.Ile1968Ser) rs1791737049
NM_138694.4(PKHD1):c.5977G>T (p.Gly1993Cys)
NM_138694.4(PKHD1):c.6311T>G (p.Leu2104Arg)
NM_138694.4(PKHD1):c.7103G>T (p.Cys2368Phe)
NM_138694.4(PKHD1):c.7400T>C (p.Leu2467Pro)
NM_138694.4(PKHD1):c.7450G>T (p.Ala2484Ser)
NM_138694.4(PKHD1):c.925T>C (p.Cys309Arg)
NM_138694.4(PKHD1):c.9614T>C (p.Ile3205Thr)

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