ClinVar Miner

List of variants in gene combination LOC126859690, PKHD1 reported as likely pathogenic for Polycystic kidney disease 4

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg) rs141103838 0.00056
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_138694.4(PKHD1):c.4838G>A (p.Cys1613Tyr) rs375437755 0.00001
NM_138694.4(PKHD1):c.5060T>C (p.Ile1687Thr) rs794727566 0.00001
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met) rs137852946 0.00001
NM_138694.4(PKHD1):c.4537_4563delinsA (p.Ala1513fs)
NM_138694.4(PKHD1):c.4593del (p.Phe1531fs)
NM_138694.4(PKHD1):c.4643_4644del (p.His1548fs)
NM_138694.4(PKHD1):c.4644_4653del (p.His1548fs)
NM_138694.4(PKHD1):c.4649del (p.Leu1550fs)
NM_138694.4(PKHD1):c.4660dup (p.Tyr1554fs) rs1801949246
NM_138694.4(PKHD1):c.4677T>A (p.Tyr1559Ter)
NM_138694.4(PKHD1):c.4682G>A (p.Cys1561Tyr)
NM_138694.4(PKHD1):c.4698del (p.Arg1567fs)
NM_138694.4(PKHD1):c.4822_4823del (p.Tyr1607_Ile1608insTer) rs1057516626
NM_138694.4(PKHD1):c.4836del (p.Cys1613fs) rs2128142414
NM_138694.4(PKHD1):c.4890del (p.Asn1631fs) rs1057516885
NM_138694.4(PKHD1):c.4926_4932del (p.Leu1643fs) rs2128142132
NM_138694.4(PKHD1):c.5069C>A (p.Ser1690Ter) rs1801882752
NM_138694.4(PKHD1):c.5081_5094del (p.Gly1694fs)
NM_138694.4(PKHD1):c.5115_5116insTATAAGAGACA (p.Val1706fs)
NM_138694.4(PKHD1):c.5116_5117insCATTTCTTATT (p.Val1706fs)
NM_138694.4(PKHD1):c.5151del (p.Gly1718fs)
NM_138694.4(PKHD1):c.5174G>C (p.Trp1725Ser)
NM_138694.4(PKHD1):c.5199del (p.Ser1734fs)
NM_138694.4(PKHD1):c.5204delinsTGTCTT (p.Arg1735fs)
NM_138694.4(PKHD1):c.5230A>C (p.Asn1744His) rs2128141336
NM_138694.4(PKHD1):c.5236+1G>C

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