ClinVar Miner

List of variants reported as uncertain significance for Autosomal recessive polycystic kidney disease by Fulgent Genetics,Fulgent Genetics

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Total variants: 20
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HGVS dbSNP
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764
NM_138694.4(PKHD1):c.1307C>G (p.Thr436Ser) rs146789444
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg) rs149781976
NM_138694.4(PKHD1):c.143G>A (p.Gly48Asp) rs557361225
NM_138694.4(PKHD1):c.2090C>T (p.Thr697Met) rs377415956
NM_138694.4(PKHD1):c.2180A>G (p.Asn727Ser) rs727504090
NM_138694.4(PKHD1):c.2825G>C (p.Gly942Ala) rs142205860
NM_138694.4(PKHD1):c.3148A>G (p.Ile1050Val) rs727504088
NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg) rs149841071
NM_138694.4(PKHD1):c.4447G>A (p.Glu1483Lys) rs146745096
NM_138694.4(PKHD1):c.5414A>G (p.Glu1805Gly) rs377674026
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) rs201105958
NM_138694.4(PKHD1):c.55C>T (p.Arg19Cys) rs767379405
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu) rs150838488
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu) rs142526715
NM_138694.4(PKHD1):c.7067C>T (p.Pro2356Leu) rs141360909
NM_138694.4(PKHD1):c.8206T>G (p.Trp2736Gly) rs764880309
NM_138694.4(PKHD1):c.8887G>A (p.Val2963Ile) rs749794881
NM_138694.4(PKHD1):c.9241A>G (p.Ile3081Val) rs142146981
NM_138694.4(PKHD1):c.934C>T (p.Arg312Trp) rs372340268

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