ClinVar Miner

List of variants in gene PKHD1 reported as uncertain significance for not specified

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Gene type:
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Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.9788T>C (p.Val3263Ala) rs146519878 0.00261
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255 0.00223
NM_138694.4(PKHD1):c.8951-13C>T rs112249812 0.00163
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu) rs142526715 0.00145
NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter) rs143616240 0.00100
NM_138694.4(PKHD1):c.10926G>A (p.Met3642Ile) rs78518523 0.00076
NM_138694.4(PKHD1):c.1925C>T (p.Thr642Ile) rs138968608 0.00070
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu) rs150046042 0.00070
NM_138694.4(PKHD1):c.9553G>A (p.Val3185Ile) rs145651593 0.00066
NM_138694.4(PKHD1):c.2243C>T (p.Ala748Val) rs141622697 0.00061
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu) rs150838488 0.00057
NM_138694.4(PKHD1):c.10210A>G (p.Ile3404Val) rs147612089 0.00056
NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His) rs149163661 0.00054
NM_138694.4(PKHD1):c.1119-18C>G rs367960459 0.00053
NM_138694.4(PKHD1):c.11507-11C>T rs201478327 0.00050
NM_138694.4(PKHD1):c.7911+19T>C rs201017366 0.00040
NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg) rs149841071 0.00039
NM_138694.4(PKHD1):c.10909C>T (p.Arg3637Cys) rs141349745 0.00025
NM_138694.4(PKHD1):c.5585C>T (p.Ser1862Leu) rs147933501 0.00022
NM_138694.4(PKHD1):c.9478C>T (p.His3160Tyr) rs147351244 0.00022
NM_138694.4(PKHD1):c.8554+3A>G rs370312392 0.00021
NM_138694.4(PKHD1):c.6121G>A (p.Gly2041Ser) rs199589074 0.00020
NM_138694.4(PKHD1):c.7734-6C>A rs367564272 0.00020
NM_138694.4(PKHD1):c.9241A>G (p.Ile3081Val) rs142146981 0.00013
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg) rs398124495 0.00011
NM_138694.4(PKHD1):c.1835A>G (p.His612Arg) rs369932370 0.00009
NM_138694.4(PKHD1):c.11869C>T (p.Arg3957Cys) rs146680689 0.00007
NM_138694.4(PKHD1):c.12106C>T (p.Arg4036Trp) rs201210830 0.00006
NM_138694.4(PKHD1):c.3368G>A (p.Gly1123Asp) rs148356158 0.00005
NM_138694.4(PKHD1):c.2280-10C>T rs749295454 0.00004
NM_138694.4(PKHD1):c.3433G>A (p.Val1145Ile) rs147035447 0.00004
NM_138694.4(PKHD1):c.434C>G (p.Pro145Arg) rs146649894 0.00004
NM_138694.4(PKHD1):c.4039G>A (p.Val1347Met) rs201087689 0.00003
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln) rs770494581 0.00003
NM_138694.4(PKHD1):c.11310+19C>T rs767496904 0.00002
NM_138694.4(PKHD1):c.5360G>T (p.Cys1787Phe) rs367970695 0.00002
NM_138694.4(PKHD1):c.6097A>G (p.Arg2033Gly) rs369626030 0.00002
NM_138694.4(PKHD1):c.7964A>C (p.His2655Pro) rs748196998 0.00002
NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg) rs777377414 0.00001
NM_138694.4(PKHD1):c.10132T>G (p.Trp3378Gly) rs1784939891 0.00001
NM_138694.4(PKHD1):c.11578A>G (p.Ile3860Val) rs755986501 0.00001
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr) rs369292828 0.00001
NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys) rs794727366 0.00001
NM_138694.4(PKHD1):c.6046A>T (p.Ser2016Cys) rs1413693039 0.00001
NM_138694.4(PKHD1):c.667G>A (p.Gly223Ser) rs749454235 0.00001
NM_138694.4(PKHD1):c.8480T>C (p.Leu2827Pro) rs776157924 0.00001
NM_138694.4(PKHD1):c.9152T>C (p.Ile3051Thr) rs1374086784 0.00001
NM_138694.4(PKHD1):c.977G>T (p.Gly326Val) rs778329699 0.00001
GRCh37/hg19 6p12.2(chr6:51801779-51878315)
NC_000006.11:g.(51915094_51917873)_(51930876_51934254)dup
NM_138694.4(PKHD1):c.10181G>A (p.Cys3394Tyr) rs1772559884
NM_138694.4(PKHD1):c.10226A>G (p.Asp3409Gly)
NM_138694.4(PKHD1):c.10315G>T (p.Asp3439Tyr)
NM_138694.4(PKHD1):c.1124G>A (p.Arg375Gln)
NM_138694.4(PKHD1):c.12142_12143inv (p.Gln4048Ter)
NM_138694.4(PKHD1):c.1234-10_1234-9delinsAC rs1554217929
NM_138694.4(PKHD1):c.1258G>C (p.Gly420Arg) rs140458350
NM_138694.4(PKHD1):c.1408G>T (p.Gly470Cys)
NM_138694.4(PKHD1):c.1919A>G (p.Lys640Arg) rs1807314191
NM_138694.4(PKHD1):c.2170C>T (p.Pro724Ser) rs1806602099
NM_138694.4(PKHD1):c.2209T>A (p.Ser737Thr)
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu) rs777183511
NM_138694.4(PKHD1):c.2569G>A (p.Gly857Arg) rs1562220663
NM_138694.4(PKHD1):c.2642T>C (p.Val881Ala) rs373974753
NM_138694.4(PKHD1):c.2926T>C (p.Ser976Pro) rs770882723
NM_138694.4(PKHD1):c.3349A>G (p.Ile1117Val)
NM_138694.4(PKHD1):c.4165C>A (p.Pro1389Thr) rs2128144732
NM_138694.4(PKHD1):c.5521G>A (p.Glu1841Lys) rs913487671
NM_138694.4(PKHD1):c.5908G>C (p.Gly1970Arg) rs794727592
NM_138694.4(PKHD1):c.5953G>A (p.Ala1985Thr) rs2127769211
NM_138694.4(PKHD1):c.6116T>C (p.Leu2039Pro)
NM_138694.4(PKHD1):c.6490+3A>G
NM_138694.4(PKHD1):c.7205G>A (p.Gly2402Asp)
NM_138694.4(PKHD1):c.776C>T (p.Ser259Leu) rs1160054242
NM_138694.4(PKHD1):c.787T>C (p.Ser263Pro)
NM_138694.4(PKHD1):c.8164A>C (p.Thr2722Pro) rs1268020662
NM_138694.4(PKHD1):c.8677C>G (p.His2893Asp) rs886061615
NM_138694.4(PKHD1):c.893_895del (p.Asp298_Ile299delinsVal)
NM_138694.4(PKHD1):c.9308G>A (p.Gly3103Asp)
NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu) rs146649803

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