ClinVar Miner

List of variants in gene PKHD1 reported by Laboratory of Molecular Genetics, Children's Memorial Health Institute

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs) rs746838237 0.00010
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) rs201105958 0.00009
NM_138694.4(PKHD1):c.8411T>A (p.Met2804Lys) rs794727759 0.00001
NM_138694.4(PKHD1):c.1001T>A (p.Val334Asp) rs1384539153
NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter) rs769559267
NM_138694.4(PKHD1):c.11237T>C (p.Leu3746Pro) rs1320401077
NM_138694.4(PKHD1):c.2170C>T (p.Pro724Ser) rs1806602099
NM_138694.4(PKHD1):c.2747A>C (p.His916Pro) rs1805300035
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp) rs370277502
NM_138694.4(PKHD1):c.3287T>C (p.Leu1096Pro) rs1803322601
NM_138694.4(PKHD1):c.3364G>A (p.Gly1122Ser) rs1803308145
NM_138694.4(PKHD1):c.390+1G>A rs752327566
NM_138694.4(PKHD1):c.4209_4232del (p.Gly1404_Gly1411del) rs1802029655
NM_138694.4(PKHD1):c.7721T>G (p.Met2574Arg) rs768265052
NM_138694.4(PKHD1):c.8114del (p.Gly2705fs) rs774050795
NM_138694.4(PKHD1):c.880+1G>A rs1582064292
NM_138694.4(PKHD1):c.9370C>T (p.His3124Tyr) rs1554218666

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