ClinVar Miner

List of variants in gene LOC126859690, PKHD1 studied for autosomal recessive disease

Included ClinVar conditions (1198):
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Gene type:
ClinVar version:
Total variants: 173
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.5236+14A>G rs12210725 0.01912
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe) rs45517932 0.00371
NM_138694.4(PKHD1):c.4920A>G (p.Val1640=) rs142465959 0.00286
NM_138694.4(PKHD1):c.5100C>T (p.Thr1700=) rs143717242 0.00178
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.5235C>T (p.Phe1745=) rs187667255 0.00028
NM_138694.4(PKHD1):c.4854C>T (p.Ile1618=) rs140674740 0.00015
NM_138694.4(PKHD1):c.5093A>G (p.Asn1698Ser) rs148108992 0.00014
NM_138694.4(PKHD1):c.4866C>A (p.Leu1622=) rs571966529 0.00009
NM_138694.4(PKHD1):c.5145C>T (p.His1715=) rs947392889 0.00009
NM_138694.4(PKHD1):c.5193G>A (p.Val1731=) rs146531432 0.00009
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
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.5082T>A (p.Gly1694=) rs755698559 0.00004
NM_138694.4(PKHD1):c.4845G>A (p.Thr1615=) rs750233738 0.00003
NM_138694.4(PKHD1):c.4855G>T (p.Gly1619Cys) rs762702777 0.00003
NM_138694.4(PKHD1):c.5013C>T (p.Thr1671=) rs549548712 0.00002
NM_138694.4(PKHD1):c.5218G>A (p.Ala1740Thr) rs762972952 0.00002
NM_138694.4(PKHD1):c.4572T>C (p.Leu1524=) rs749014649 0.00001
NM_138694.4(PKHD1):c.4605C>T (p.His1535=) rs1156915554 0.00001
NM_138694.4(PKHD1):c.4647C>T (p.Tyr1549=) rs761341768 0.00001
NM_138694.4(PKHD1):c.4653A>C (p.Ser1551=) rs1293523388 0.00001
NM_138694.4(PKHD1):c.4770C>T (p.Leu1590=) rs768093597 0.00001
NM_138694.4(PKHD1):c.4811C>T (p.Thr1604Met) rs1370869109 0.00001
NM_138694.4(PKHD1):c.4838G>A (p.Cys1613Tyr) rs375437755 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.5046C>T (p.Asn1682=) rs1176670371 0.00001
NM_138694.4(PKHD1):c.5060T>C (p.Ile1687Thr) rs794727566 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.5157T>C (p.Tyr1719=) rs1292888938 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.5226G>A (p.Thr1742=) rs747933439 0.00001
NM_138694.4(PKHD1):c.5229G>A (p.Glu1743=) rs768277731 0.00001
NM_138694.4(PKHD1):c.5231A>G (p.Asn1744Ser) rs746705122 0.00001
NM_138694.4(PKHD1):c.4537_4563delinsA (p.Ala1513fs)
NM_138694.4(PKHD1):c.4572T>G (p.Leu1524=) rs749014649
NM_138694.4(PKHD1):c.4574del (p.Pro1525fs) rs1057516691
NM_138694.4(PKHD1):c.4577_4588del (p.Cys1526_Thr1529del) rs1554198521
NM_138694.4(PKHD1):c.4593del (p.Phe1531fs)
NM_138694.4(PKHD1):c.4593dup (p.Asn1532Ter) rs1057516263
NM_138694.4(PKHD1):c.4611G>A (p.Val1537=) rs2128143175
NM_138694.4(PKHD1):c.4614C>T (p.Cys1538=)
NM_138694.4(PKHD1):c.4620A>G (p.Thr1540=)
NM_138694.4(PKHD1):c.4632C>T (p.Ala1544=)
NM_138694.4(PKHD1):c.4638A>G (p.Gly1546=) rs2128143082
NM_138694.4(PKHD1):c.4638A>T (p.Gly1546=)
NM_138694.4(PKHD1):c.4639C>T (p.Pro1547Ser)
NM_138694.4(PKHD1):c.4643_4644del (p.His1548fs)
NM_138694.4(PKHD1):c.4644_4653del (p.His1548fs)
NM_138694.4(PKHD1):c.4644del (p.Tyr1549fs) rs2128143028
NM_138694.4(PKHD1):c.4649del (p.Leu1550fs)
NM_138694.4(PKHD1):c.4650G>A (p.Leu1550=) rs2128142975
NM_138694.4(PKHD1):c.4660dup (p.Tyr1554fs) rs1801949246
NM_138694.4(PKHD1):c.4665A>G (p.Thr1555=)
NM_138694.4(PKHD1):c.4666del (p.Arg1556fs)
NM_138694.4(PKHD1):c.4674G>A (p.Gly1558=) rs943531478
NM_138694.4(PKHD1):c.4674G>T (p.Gly1558=)
NM_138694.4(PKHD1):c.4677T>A (p.Tyr1559Ter)
NM_138694.4(PKHD1):c.4682G>A (p.Cys1561Tyr)
NM_138694.4(PKHD1):c.4686T>C (p.Ser1562=) rs2128142828
NM_138694.4(PKHD1):c.4698C>A (p.Ser1566=)
NM_138694.4(PKHD1):c.4698C>T (p.Ser1566=) rs2128142795
NM_138694.4(PKHD1):c.4698del (p.Arg1567fs)
NM_138694.4(PKHD1):c.4701A>G (p.Arg1567=) rs2128142789
NM_138694.4(PKHD1):c.4710C>T (p.Tyr1570=)
NM_138694.4(PKHD1):c.4719C>G (p.Pro1573=) rs577804747
NM_138694.4(PKHD1):c.4719C>T (p.Pro1573=) rs577804747
NM_138694.4(PKHD1):c.4722A>G (p.Gln1574=)
NM_138694.4(PKHD1):c.4733del (p.Tyr1578fs) rs727504087
NM_138694.4(PKHD1):c.4751G>T (p.Ser1584Ile) rs1197981811
NM_138694.4(PKHD1):c.4761T>C (p.Gly1587=)
NM_138694.4(PKHD1):c.4778_4779del (p.Ile1593fs) rs2128142610
NM_138694.4(PKHD1):c.4785C>T (p.Gly1595=)
NM_138694.4(PKHD1):c.4792C>G (p.Leu1598Val) rs1562162277
NM_138694.4(PKHD1):c.4794G>A (p.Leu1598=) rs2128142547
NM_138694.4(PKHD1):c.4797A>G (p.Arg1599=) rs2128142531
NM_138694.4(PKHD1):c.4806C>T (p.Asn1602=)
NM_138694.4(PKHD1):c.4812G>A (p.Thr1604=) rs780533224
NM_138694.4(PKHD1):c.4816del (p.Val1606fs) rs2128142490
NM_138694.4(PKHD1):c.4822_4823del (p.Tyr1607_Ile1608insTer) rs1057516626
NM_138694.4(PKHD1):c.4827C>T (p.Asp1609=)
NM_138694.4(PKHD1):c.4836del (p.Cys1613fs) rs2128142414
NM_138694.4(PKHD1):c.4838G>T (p.Cys1613Phe)
NM_138694.4(PKHD1):c.4839C>T (p.Cys1613=)
NM_138694.4(PKHD1):c.4840C>T (p.Leu1614=) rs2128142388
NM_138694.4(PKHD1):c.4844C>T (p.Thr1615Met) rs147529495
NM_138694.4(PKHD1):c.4854C>A (p.Ile1618=)
NM_138694.4(PKHD1):c.4870C>A (p.Arg1624=)
NM_138694.4(PKHD1):c.4880T>C (p.Val1627Ala)
NM_138694.4(PKHD1):c.4882C>G (p.Pro1628Ala) rs267601070
NM_138694.4(PKHD1):c.4885A>G (p.Thr1629Ala)
NM_138694.4(PKHD1):c.4888G>A (p.Gly1630Arg)
NM_138694.4(PKHD1):c.4890del (p.Asn1631fs) rs1057516885
NM_138694.4(PKHD1):c.4899T>C (p.Ser1633=) rs2128142178
NM_138694.4(PKHD1):c.4914A>C (p.Ile1638=)
NM_138694.4(PKHD1):c.4920A>T (p.Val1640=)
NM_138694.4(PKHD1):c.4923T>C (p.Asp1641=)
NM_138694.4(PKHD1):c.4926_4932del (p.Leu1643fs) rs2128142132
NM_138694.4(PKHD1):c.4932G>A (p.Trp1644Ter) rs779028446
NM_138694.4(PKHD1):c.4944A>T (p.Gly1648=)
NM_138694.4(PKHD1):c.4956T>C (p.Tyr1652=)
NM_138694.4(PKHD1):c.4959C>T (p.Asn1653=) rs2128142061
NM_138694.4(PKHD1):c.4971C>T (p.Thr1657=)
NM_138694.4(PKHD1):c.4973C>T (p.Pro1658Leu) rs1554198203
NM_138694.4(PKHD1):c.4974A>G (p.Pro1658=)
NM_138694.4(PKHD1):c.4977A>G (p.Glu1659=) rs2128142025
NM_138694.4(PKHD1):c.4980G>A (p.Leu1660=) rs767061150
NM_138694.4(PKHD1):c.4990T>C (p.Ser1664Pro)
NM_138694.4(PKHD1):c.4991C>T (p.Ser1664Phe) rs28937907
NM_138694.4(PKHD1):c.4993C>T (p.Gln1665Ter) rs2128141956
NM_138694.4(PKHD1):c.4998C>T (p.Ser1666=) rs374025329
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.5034A>G (p.Ser1678=) rs1463161754
NM_138694.4(PKHD1):c.5043A>G (p.Ala1681=) rs2128141801
NM_138694.4(PKHD1):c.5059A>G (p.Ile1687Val) rs749029593
NM_138694.4(PKHD1):c.5060T>G (p.Ile1687Arg)
NM_138694.4(PKHD1):c.5064A>C (p.Gly1688=)
NM_138694.4(PKHD1):c.5065del (p.Met1689fs) rs1554198072
NM_138694.4(PKHD1):c.5069C>A (p.Ser1690Ter) rs1801882752
NM_138694.4(PKHD1):c.5075G>A (p.Cys1692Tyr)
NM_138694.4(PKHD1):c.5075G>C (p.Cys1692Ser)
NM_138694.4(PKHD1):c.5081_5094del (p.Gly1694fs)
NM_138694.4(PKHD1):c.5090G>A (p.Gly1697Asp) rs752432638
NM_138694.4(PKHD1):c.5094C>A (p.Asn1698Lys)
NM_138694.4(PKHD1):c.5094C>T (p.Asn1698=) rs754435223
NM_138694.4(PKHD1):c.5097C>T (p.His1699=) rs2128141621
NM_138694.4(PKHD1):c.5100C>G (p.Thr1700=) rs143717242
NM_138694.4(PKHD1):c.5115_5116insTATAAGAGACA (p.Val1706fs)
NM_138694.4(PKHD1):c.5116_5117insCATTTCTTATT (p.Val1706fs)
NM_138694.4(PKHD1):c.5117del (p.Val1706fs)
NM_138694.4(PKHD1):c.5118C>T (p.Val1706=)
NM_138694.4(PKHD1):c.5130G>T (p.Pro1710=) rs769591140
NM_138694.4(PKHD1):c.5133C>G (p.Ala1711=) rs144841026
NM_138694.4(PKHD1):c.5133C>T (p.Ala1711=) rs144841026
NM_138694.4(PKHD1):c.5134G>C (p.Gly1712Arg)
NM_138694.4(PKHD1):c.5146G>T (p.Val1716Phe) rs751058491
NM_138694.4(PKHD1):c.5149A>C (p.Arg1717=) rs533522031
NM_138694.4(PKHD1):c.5151del (p.Gly1718fs)
NM_138694.4(PKHD1):c.5154C>T (p.Gly1718=)
NM_138694.4(PKHD1):c.5155dup (p.Tyr1719fs)
NM_138694.4(PKHD1):c.5156A>G (p.Tyr1719Cys)
NM_138694.4(PKHD1):c.5163C>T (p.Cys1721=)
NM_138694.4(PKHD1):c.5171G>T (p.Gly1724Val)
NM_138694.4(PKHD1):c.5172G>A (p.Gly1724=) rs2128141485
NM_138694.4(PKHD1):c.5174G>C (p.Trp1725Ser)
NM_138694.4(PKHD1):c.5178C>G (p.Ala1726=)
NM_138694.4(PKHD1):c.5181A>T (p.Ser1727=) rs2128141454
NM_138694.4(PKHD1):c.5187C>G (p.Ala1729=)
NM_138694.4(PKHD1):c.5187C>T (p.Ala1729=)
NM_138694.4(PKHD1):c.5196C>T (p.Phe1732=) rs2128141429
NM_138694.4(PKHD1):c.5199C>A (p.Thr1733=) rs148790132
NM_138694.4(PKHD1):c.5199C>T (p.Thr1733=) rs148790132
NM_138694.4(PKHD1):c.5204delinsTGTCTT (p.Arg1735fs)
NM_138694.4(PKHD1):c.5230A>C (p.Asn1744His) rs2128141336
NM_138694.4(PKHD1):c.5236+10G>A rs2128141304
NM_138694.4(PKHD1):c.5236+17A>C
NM_138694.4(PKHD1):c.5236+1G>A rs398124487
NM_138694.4(PKHD1):c.5236+1G>C
NM_138694.4(PKHD1):c.5236+20C>T
NM_138694.4(PKHD1):c.5236+2T>C
NM_138694.4(PKHD1):c.5236+31_5236+34del rs547420704
NM_138694.4(PKHD1):c.5236+7C>A rs2128141306
NM_138694.4(PKHD1):c.5236+9A>G
NM_138694.4(PKHD1):c.5236G>A (p.Gly1746Ser)
NM_138694.4(PKHD1):c.5236G>C (p.Gly1746Arg) rs745387993

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