ClinVar Miner

List of variants in gene PKHD1 reported as likely pathogenic for not provided

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Total variants: 35
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HGVS dbSNP
NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg) rs777377414
NM_138694.4(PKHD1):c.10145del (p.Phe3382fs)
NM_138694.4(PKHD1):c.10658T>A (p.Ile3553Asn)
NM_138694.4(PKHD1):c.10664T>A (p.Ile3555Lys) rs794727819
NM_138694.4(PKHD1):c.1116C>G (p.Phe372Leu)
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp) rs376040501
NM_138694.4(PKHD1):c.1505A>T (p.Glu502Val) rs767695967
NM_138694.4(PKHD1):c.2279+5G>A
NM_138694.4(PKHD1):c.2299_2306delinsTCTG (p.Thr767fs) rs1064796287
NM_138694.4(PKHD1):c.2978A>G (p.His993Arg) rs786205582
NM_138694.4(PKHD1):c.3089C>T (p.Ala1030Val)
NM_138694.4(PKHD1):c.3122G>A (p.Gly1041Asp) rs794727466
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu)
NM_138694.4(PKHD1):c.3539G>A (p.Gly1180Glu)
NM_138694.4(PKHD1):c.390+1G>T rs752327566
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs) rs1057517273
NM_138694.4(PKHD1):c.4330C>T (p.Gln1444Ter)
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019
NM_138694.4(PKHD1):c.5060T>C (p.Ile1687Thr) rs794727566
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg) rs141103838
NM_138694.4(PKHD1):c.5372C>T (p.Pro1791Leu) rs886042677
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp) rs180675584
NM_138694.4(PKHD1):c.682A>G (p.Ser228Gly) rs398124491
NM_138694.4(PKHD1):c.7109+3A>C
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys) rs752994816
NM_138694.4(PKHD1):c.778+1G>C
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg) rs886061616
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu) rs747322128
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg) rs398124495
NM_138694.4(PKHD1):c.8408G>A (p.Cys2803Tyr) rs398124496
NM_138694.4(PKHD1):c.8411T>A (p.Met2804Lys) rs794727759
NM_138694.4(PKHD1):c.8518C>T (p.Arg2840Cys)
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter) rs398124498
NM_138694.4(PKHD1):c.9296C>A (p.Ser3099Ter) rs757946548
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile) rs148932323

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