ClinVar Miner

List of variants in gene combination LOC126859690, PKHD1 reported as uncertain significance for autosomal recessive polycystic kidney disease

Included ClinVar conditions (3):
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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe) rs45517932 0.00371
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg) rs141103838 0.00056
NM_138694.4(PKHD1):c.4871G>A (p.Arg1624Gln) rs190396031 0.00053
NM_138694.4(PKHD1):c.5193G>A (p.Val1731=) rs146531432 0.00009
NM_138694.4(PKHD1):c.5112C>T (p.Cys1704=) rs202010726 0.00006
NM_138694.4(PKHD1):c.5129C>T (p.Pro1710Leu) rs749294509 0.00006
NM_138694.4(PKHD1):c.4835C>A (p.Thr1612Asn) rs754964877 0.00004
NM_138694.4(PKHD1):c.4845G>A (p.Thr1615=) rs750233738 0.00003
NM_138694.4(PKHD1):c.4852A>G (p.Ile1618Val) rs143322944 0.00003
NM_138694.4(PKHD1):c.4855G>T (p.Gly1619Cys) rs762702777 0.00003
NM_138694.4(PKHD1):c.4811C>T (p.Thr1604Met) rs1370869109 0.00001
NM_138694.4(PKHD1):c.4876A>G (p.Ile1626Val) rs770183868 0.00001
NM_138694.4(PKHD1):c.4904C>T (p.Ala1635Val) rs1270680534 0.00001
NM_138694.4(PKHD1):c.4918G>A (p.Val1640Ile) rs1396314967 0.00001
NM_138694.4(PKHD1):c.5069C>T (p.Ser1690Leu) rs1801882752 0.00001
NM_138694.4(PKHD1):c.5123C>A (p.Ser1708Tyr) rs759619749 0.00001
NM_138694.4(PKHD1):c.5160C>T (p.Asp1720=) rs754333450 0.00001
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met) rs137852946 0.00001
NM_138694.4(PKHD1):c.5231A>G (p.Asn1744Ser) rs746705122 0.00001
NM_138694.4(PKHD1):c.4577_4588del (p.Cys1526_Thr1529del) rs1554198521
NM_138694.4(PKHD1):c.4589T>C (p.Phe1530Ser)
NM_138694.4(PKHD1):c.4639C>T (p.Pro1547Ser)
NM_138694.4(PKHD1):c.4697C>T (p.Ser1566Phe)
NM_138694.4(PKHD1):c.4716G>A (p.Met1572Ile)
NM_138694.4(PKHD1):c.4741A>G (p.Lys1581Glu)
NM_138694.4(PKHD1):c.4751G>T (p.Ser1584Ile) rs1197981811
NM_138694.4(PKHD1):c.4792C>G (p.Leu1598Val) rs1562162277
NM_138694.4(PKHD1):c.4859C>A (p.Ala1620Asp)
NM_138694.4(PKHD1):c.4880T>C (p.Val1627Ala)
NM_138694.4(PKHD1):c.4885A>G (p.Thr1629Ala)
NM_138694.4(PKHD1):c.4888G>A (p.Gly1630Arg)
NM_138694.4(PKHD1):c.4903G>A (p.Ala1635Thr)
NM_138694.4(PKHD1):c.4932_4933delinsTC (p.Trp1644_Tyr1645delinsCysHis)
NM_138694.4(PKHD1):c.4973C>T (p.Pro1658Leu) rs1554198203
NM_138694.4(PKHD1):c.4990T>C (p.Ser1664Pro)
NM_138694.4(PKHD1):c.4999G>A (p.Asp1667Asn)
NM_138694.4(PKHD1):c.5012C>G (p.Thr1671Ser) rs1313759171
NM_138694.4(PKHD1):c.5023G>A (p.Ala1675Thr) rs1801889887
NM_138694.4(PKHD1):c.5059A>G (p.Ile1687Val) rs749029593
NM_138694.4(PKHD1):c.5090G>A (p.Gly1697Asp) rs752432638
NM_138694.4(PKHD1):c.5094C>A (p.Asn1698Lys)
NM_138694.4(PKHD1):c.5101G>A (p.Val1701Ile)
NM_138694.4(PKHD1):c.5110T>C (p.Cys1704Arg)
NM_138694.4(PKHD1):c.5117T>A (p.Val1706Asp)
NM_138694.4(PKHD1):c.5120C>T (p.Pro1707Leu)
NM_138694.4(PKHD1):c.5123C>T (p.Ser1708Phe)
NM_138694.4(PKHD1):c.5133C>G (p.Ala1711=) rs144841026
NM_138694.4(PKHD1):c.5146G>T (p.Val1716Phe) rs751058491
NM_138694.4(PKHD1):c.5156A>G (p.Tyr1719Cys)
NM_138694.4(PKHD1):c.5171G>T (p.Gly1724Val)
NM_138694.4(PKHD1):c.5212A>G (p.Ile1738Val)
NM_138694.4(PKHD1):c.5228A>G (p.Glu1743Gly)
NM_138694.4(PKHD1):c.5236G>A (p.Gly1746Ser)
NM_138694.4(PKHD1):c.5236G>C (p.Gly1746Arg) rs745387993

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