ClinVar Miner

List of variants studied for Autosomal recessive polycystic kidney disease by Baylor Genetics

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Total variants: 81
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HGVS dbSNP
NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter) rs201082169
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) rs148617572
NM_138694.4(PKHD1):c.10628_10635del (p.Leu3543fs)
NM_138694.4(PKHD1):c.10637del (p.Val3546fs) rs770461067
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944
NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter) rs769559267
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp) rs376040501
NM_138694.4(PKHD1):c.11399-1G>A
NM_138694.4(PKHD1):c.11611T>C (p.Trp3871Arg)
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter) rs760426769
NM_138694.4(PKHD1):c.11776del (p.Val3926fs) rs1057517324
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter) rs144193508
NM_138694.4(PKHD1):c.12076C>T (p.Gln4026Ter)
NM_138694.4(PKHD1):c.1233+1G>A rs886061623
NM_138694.4(PKHD1):c.1338del (p.Leu447fs)
NM_138694.4(PKHD1):c.1397G>C (p.Gly466Ala) rs750730042
NM_138694.4(PKHD1):c.1458C>A (p.Tyr486Ter) rs786204749
NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter) rs754392766
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter) rs137852949
NM_138694.4(PKHD1):c.1554G>A (p.Trp518Ter)
NM_138694.4(PKHD1):c.1699G>T (p.Glu567Ter)
NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter) rs749293235
NM_138694.4(PKHD1):c.1836+1G>A
NM_138694.4(PKHD1):c.2017del (p.Asp673fs)
NM_138694.4(PKHD1):c.2140+1G>A
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu) rs758352210
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu) rs777183511
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter) rs398124478
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu) rs199531851
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala) rs199568593
NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter) rs727504089
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp) rs370277502
NM_138694.4(PKHD1):c.281+1G>A
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile) rs747895516
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu)
NM_138694.4(PKHD1):c.353del (p.Ser118fs) rs398124483
NM_138694.4(PKHD1):c.370C>T (p.Arg124Ter) rs727504096
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) rs746972457
NM_138694.4(PKHD1):c.383del (p.Thr128fs) rs868562051
NM_138694.4(PKHD1):c.4105dup (p.Arg1369fs)
NM_138694.4(PKHD1):c.4147C>T (p.Gln1383Ter)
NM_138694.4(PKHD1):c.4220T>G (p.Leu1407Arg)
NM_138694.4(PKHD1):c.474G>A (p.Trp158Ter)
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met) rs137852946
NM_138694.4(PKHD1):c.5323C>T (p.Arg1775Ter) rs770522674
NM_138694.4(PKHD1):c.5441dup (p.His1814fs)
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) rs201105958
NM_138694.4(PKHD1):c.5600+1G>A
NM_138694.4(PKHD1):c.5750A>G (p.Gln1917Arg)
NM_138694.4(PKHD1):c.5751+3A>G
NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs) rs746838237
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp) rs180675584
NM_138694.4(PKHD1):c.6091del (p.Ala2031fs) rs1057516804
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690
NM_138694.4(PKHD1):c.667G>A (p.Gly223Ser)
NM_138694.4(PKHD1):c.6809-2A>T
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145
NM_138694.4(PKHD1):c.7062del (p.Ala2355fs)
NM_138694.4(PKHD1):c.711_714del (p.Met238fs) rs786204588
NM_138694.4(PKHD1):c.7280T>C (p.Ile2427Thr) rs398124492
NM_138694.4(PKHD1):c.731G>A (p.Trp244Ter)
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter) rs181208607
NM_138694.4(PKHD1):c.8011C>T (p.Arg2671Ter) rs137852947
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg) rs886061616
NM_138694.4(PKHD1):c.8174-2A>T
NM_138694.4(PKHD1):c.8518C>T (p.Arg2840Cys)
NM_138694.4(PKHD1):c.8543del (p.Pro2848fs)
NM_138694.4(PKHD1):c.8555-2A>C rs1020621286
NM_138694.4(PKHD1):c.8629del (p.Ser2877fs)
NM_138694.4(PKHD1):c.8734_8752del (p.Thr2912fs)
NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr) rs760222236
NM_138694.4(PKHD1):c.8935C>T (p.Arg2979Ter)
NM_138694.4(PKHD1):c.898A>T (p.Arg300Ter)
NM_138694.4(PKHD1):c.930del (p.Thr311fs) rs398124501
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter) rs786204688
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs) rs797045101
NM_138694.4(PKHD1):c.9689del (p.Asp3230fs) rs398124502
NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter) rs398124503
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln) rs770494581

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