ClinVar Miner

List of variants reported as uncertain significance for Polycystic kidney disease 4 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.4871G>A (p.Arg1624Gln) rs190396031 0.00051
NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val) rs45627337 0.00035
NM_138694.4(PKHD1):c.12142C>T (p.Gln4048Ter) rs201812542 0.00020
NM_138694.4(PKHD1):c.4009G>A (p.Asp1337Asn) rs373255125 0.00009
NM_138694.4(PKHD1):c.712A>G (p.Met238Val) rs760274684 0.00003
NM_138694.4(PKHD1):c.9705T>A (p.Asn3235Lys) rs759568939 0.00002
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter) rs144193508 0.00001
NM_138694.4(PKHD1):c.12225A>T (p.Ter4075Cys) rs1347911533 0.00001
NM_138694.4(PKHD1):c.166T>C (p.Ser56Pro) rs1213188447 0.00001
NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys) rs794727366 0.00001
NM_138694.4(PKHD1):c.4811C>T (p.Thr1604Met) rs1370869109 0.00001
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met) rs137852946 0.00001
NM_138694.4(PKHD1):c.619G>T (p.Asp207Tyr) rs1329600374 0.00001
NM_138694.4(PKHD1):c.10075G>C (p.Gly3359Arg) rs747753565
NM_138694.4(PKHD1):c.1166C>T (p.Thr389Ile) rs1808430812
NM_138694.4(PKHD1):c.2179A>G (p.Asn727Asp) rs1419399644
NM_138694.4(PKHD1):c.2217G>A (p.Pro739=) rs373367366
NM_138694.4(PKHD1):c.2948G>A (p.Cys983Tyr) rs1554208064
NM_138694.4(PKHD1):c.3373A>G (p.Thr1125Ala) rs144365187
NM_138694.4(PKHD1):c.5236G>C (p.Gly1746Arg) rs745387993
NM_138694.4(PKHD1):c.5358C>G (p.Ser1786Arg) rs78543922

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