ClinVar Miner

List of variants in gene PKHD1 reported as likely pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 177
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.9662C>T (p.Pro3221Leu) rs145141656 0.00016
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) rs201105958 0.00009
NM_138694.4(PKHD1):c.11665+1G>A rs759851475 0.00004
NM_138694.4(PKHD1):c.7430T>G (p.Phe2477Cys) rs1366295189 0.00003
NM_138694.4(PKHD1):c.390+1G>T rs752327566 0.00002
NM_138694.4(PKHD1):c.5360G>T (p.Cys1787Phe) rs367970695 0.00002
NM_138694.4(PKHD1):c.9059T>C (p.Leu3020Pro) rs757148837 0.00002
NM_138694.4(PKHD1):c.931A>G (p.Thr311Ala) rs890884615 0.00002
NM_138694.4(PKHD1):c.106A>G (p.Thr36Ala) rs758858303 0.00001
NM_138694.4(PKHD1):c.11284C>A (p.Pro3762Thr) rs1229349983 0.00001
NM_138694.4(PKHD1):c.11398+2T>C rs754038777 0.00001
NM_138694.4(PKHD1):c.1409G>T (p.Gly470Val) rs776845008 0.00001
NM_138694.4(PKHD1):c.1694-2A>G rs1807619777 0.00001
NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys) rs794727366 0.00001
NM_138694.4(PKHD1):c.2638C>T (p.Arg880Cys) rs752646435 0.00001
NM_138694.4(PKHD1):c.2821+2T>C rs1394431107 0.00001
NM_138694.4(PKHD1):c.3229-2del rs1057516283 0.00001
NM_138694.4(PKHD1):c.3383T>C (p.Ile1128Thr) rs78624439 0.00001
NM_138694.4(PKHD1):c.428A>G (p.Tyr143Cys) rs141093030 0.00001
NM_138694.4(PKHD1):c.53-1G>A rs775511838 0.00001
NM_138694.4(PKHD1):c.603-2A>G rs757521428 0.00001
NM_138694.4(PKHD1):c.667G>A (p.Gly223Ser) rs749454235 0.00001
NM_138694.4(PKHD1):c.707+1G>A rs748365248 0.00001
NM_138694.4(PKHD1):c.8318T>G (p.Val2773Gly) rs1471306684 0.00001
NM_138694.4(PKHD1):c.8408G>A (p.Cys2803Tyr) rs398124496 0.00001
NM_138694.4(PKHD1):c.8411T>A (p.Met2804Lys) rs794727759 0.00001
NM_138694.4(PKHD1):c.8554+1G>A rs1790925351 0.00001
NM_138694.4(PKHD1):c.8555-2A>C rs1020621286 0.00001
NM_138694.4(PKHD1):c.9146A>G (p.His3049Arg) rs367678592 0.00001
NM_138694.4(PKHD1):c.9152T>C (p.Ile3051Thr) rs1374086784 0.00001
NM_138694.4(PKHD1):c.9371A>G (p.His3124Arg) rs373241537 0.00001
NM_138694.4(PKHD1):c.9464A>G (p.Tyr3155Cys) rs957419550 0.00001
NM_138694.4(PKHD1):c.977-1G>A rs1808864196 0.00001
NM_138694.4(PKHD1):c.977G>T (p.Gly326Val) rs778329699 0.00001
NC_000006.11:g.(?_51483869)_(51524777_?)del
NC_000006.11:g.(?_51491785)_(51609350_?)del
NC_000006.11:g.(?_51491828)_(51492507_?)del
NC_000006.11:g.(?_51497353)_(51524777_?)del
NC_000006.11:g.(?_51609173)_(51611697_?)del
NC_000006.11:g.(?_51747238)_(51777384_?)dup
NC_000006.11:g.(?_51750655)_(51768850_?)dup
NC_000006.11:g.(?_51768385)_(51799130_?)dup
NC_000006.11:g.(?_51798898)_(51824834_?)dup
NC_000006.11:g.(?_51875087)_(51882447_?)dup
NC_000006.11:g.(?_51917864)_(51924850_?)dup
NC_000006.12:g.(?_51855873)_(51912596_?)dup
NM_138694.4(PKHD1):c.10058T>A (p.Leu3353His)
NM_138694.4(PKHD1):c.10157-1G>T rs2150418842
NM_138694.4(PKHD1):c.10157-2A>G rs2150418852
NM_138694.4(PKHD1):c.10180T>C (p.Cys3394Arg)
NM_138694.4(PKHD1):c.10181G>A (p.Cys3394Tyr) rs1772559884
NM_138694.4(PKHD1):c.10414T>G (p.Cys3472Gly) rs1772510920
NM_138694.4(PKHD1):c.11174+2T>C rs2150410774
NM_138694.4(PKHD1):c.11174_11175-4798del
NM_138694.4(PKHD1):c.11175-2A>G
NM_138694.4(PKHD1):c.1118+1G>T rs1808826795
NM_138694.4(PKHD1):c.11285C>T (p.Pro3762Leu)
NM_138694.4(PKHD1):c.11310+1G>C rs1365407882
NM_138694.4(PKHD1):c.11452G>T (p.Val3818Phe) rs1385935333
NM_138694.4(PKHD1):c.11507-1G>A rs2150304734
NM_138694.4(PKHD1):c.11507-2A>T
NM_138694.4(PKHD1):c.1160A>T (p.Asn387Ile)
NM_138694.4(PKHD1):c.11666-593_11752del rs2150277532
NM_138694.4(PKHD1):c.1199T>C (p.Leu400Ser)
NM_138694.4(PKHD1):c.1233+1G>A rs886061623
NM_138694.4(PKHD1):c.1397G>C (p.Gly466Ala) rs750730042
NM_138694.4(PKHD1):c.1418T>G (p.Ile473Ser)
NM_138694.4(PKHD1):c.1513-1G>A
NM_138694.4(PKHD1):c.1602+2T>C
NM_138694.4(PKHD1):c.1693+1G>T rs2128209217
NM_138694.4(PKHD1):c.1693+2T>C
NM_138694.4(PKHD1):c.1694-1G>C rs398124477
NM_138694.4(PKHD1):c.1836+1G>A rs780898021
NM_138694.4(PKHD1):c.1846G>A (p.Ala616Thr)
NM_138694.4(PKHD1):c.1964+2T>C
NM_138694.4(PKHD1):c.1965-2A>T rs2128203974
NM_138694.4(PKHD1):c.1980C>G (p.Cys660Trp) rs1554214097
NM_138694.4(PKHD1):c.2141-1G>A rs2128197058
NM_138694.4(PKHD1):c.2280-2A>G rs780675990
NM_138694.4(PKHD1):c.2542T>A (p.Trp848Arg)
NM_138694.4(PKHD1):c.2592+1G>C rs758812102
NM_138694.4(PKHD1):c.2592+1G>T
NM_138694.4(PKHD1):c.2639G>C (p.Arg880Pro)
NM_138694.4(PKHD1):c.2715+1G>T
NM_138694.4(PKHD1):c.281+1G>T
NM_138694.4(PKHD1):c.282-2A>T rs1554227278
NM_138694.4(PKHD1):c.2822-1G>C rs1554208257
NM_138694.4(PKHD1):c.2855G>A (p.Gly952Glu)
NM_138694.4(PKHD1):c.3098-1G>A rs2128169165
NM_138694.4(PKHD1):c.3098-2A>T
NM_138694.4(PKHD1):c.3157G>C (p.Gly1053Arg)
NM_138694.4(PKHD1):c.3229-1G>A
NM_138694.4(PKHD1):c.3229-2A>C rs1057516872
NM_138694.4(PKHD1):c.3365-3C>T rs2128153381
NM_138694.4(PKHD1):c.3561-1G>A rs1802457333
NM_138694.4(PKHD1):c.390+1G>A rs752327566
NM_138694.4(PKHD1):c.4165C>A (p.Pro1389Thr) rs2128144732
NM_138694.4(PKHD1):c.4220T>C (p.Leu1407Pro)
NM_138694.4(PKHD1):c.4292G>T (p.Cys1431Phe) rs753307105
NM_138694.4(PKHD1):c.4293T>G (p.Cys1431Trp)
NM_138694.4(PKHD1):c.449-1G>A
NM_138694.4(PKHD1):c.53-3C>A
NM_138694.4(PKHD1):c.5380+2T>G rs1801591463
NM_138694.4(PKHD1):c.5381-7_5385del rs2128130561
NM_138694.4(PKHD1):c.5624T>G (p.Val1875Gly)
NM_138694.4(PKHD1):c.5751+1G>A rs775638588
NM_138694.4(PKHD1):c.5752-1G>C
NM_138694.4(PKHD1):c.5752-2A>G rs1057516407
NM_138694.4(PKHD1):c.5869G>A (p.Asp1957Asn)
NM_138694.4(PKHD1):c.5909-2del rs1334913120
NM_138694.4(PKHD1):c.5984A>G (p.Glu1995Gly) rs1554144359
NM_138694.4(PKHD1):c.602+1G>A rs1554223950
NM_138694.4(PKHD1):c.602+2T>A rs2128231798
NM_138694.4(PKHD1):c.6074A>G (p.Tyr2025Cys) rs1554144226
NM_138694.4(PKHD1):c.6121+1G>T rs2127767937
NM_138694.4(PKHD1):c.6332+1G>A
NM_138694.4(PKHD1):c.6491-2A>G rs2127653183
NM_138694.4(PKHD1):c.6683-2A>C rs2127637373
NM_138694.4(PKHD1):c.6761T>G (p.Val2254Gly)
NM_138694.4(PKHD1):c.6793C>T (p.His2265Tyr)
NM_138694.4(PKHD1):c.6809-2A>G rs1340926191
NM_138694.4(PKHD1):c.6809-2A>T rs1340926191
NM_138694.4(PKHD1):c.6865+1G>A
NM_138694.4(PKHD1):c.6866-16_6866del rs1554299291
NM_138694.4(PKHD1):c.6866-1G>C rs1781631365
NM_138694.4(PKHD1):c.6866-1G>T
NM_138694.4(PKHD1):c.6866-2A>T
NM_138694.4(PKHD1):c.6866-2_6866-1delinsGA rs1562581286
NM_138694.4(PKHD1):c.6893G>T (p.Arg2298Ile) rs1781623229
NM_138694.4(PKHD1):c.6996+2del rs2127621751
NM_138694.4(PKHD1):c.6996+4A>T
NM_138694.4(PKHD1):c.707+2T>C rs1554222939
NM_138694.4(PKHD1):c.7215+1G>T
NM_138694.4(PKHD1):c.7350+1G>T rs1057516588
NM_138694.4(PKHD1):c.7350+2T>A
NM_138694.4(PKHD1):c.7486+1G>T rs1554282419
NM_138694.4(PKHD1):c.764A>G (p.Tyr255Cys) rs886042259
NM_138694.4(PKHD1):c.778+1G>C rs753471298
NM_138694.4(PKHD1):c.779-1G>A
NM_138694.4(PKHD1):c.779-2A>G rs2128224166
NM_138694.4(PKHD1):c.7963C>A (p.His2655Asn)
NM_138694.4(PKHD1):c.8068T>G (p.Trp2690Gly)
NM_138694.4(PKHD1):c.8069G>C (p.Trp2690Ser)
NM_138694.4(PKHD1):c.8069G>T (p.Trp2690Leu) rs768660365
NM_138694.4(PKHD1):c.8102_8107+8del rs2151627285
NM_138694.4(PKHD1):c.8173+2T>G rs2151549200
NM_138694.4(PKHD1):c.8174-2A>G
NM_138694.4(PKHD1):c.8174-2A>T rs1582925274
NM_138694.4(PKHD1):c.8206T>A (p.Trp2736Arg)
NM_138694.4(PKHD1):c.8426G>A (p.Gly2809Glu) rs2151261317
NM_138694.4(PKHD1):c.8440+1G>A rs1793689014
NM_138694.4(PKHD1):c.8441-1G>A
NM_138694.4(PKHD1):c.847T>A (p.Phe283Ile)
NM_138694.4(PKHD1):c.847T>C (p.Phe283Leu) rs375145340
NM_138694.4(PKHD1):c.8497T>C (p.Ser2833Pro) rs1790936941
NM_138694.4(PKHD1):c.8518C>G (p.Arg2840Gly) rs200432861
NM_138694.4(PKHD1):c.8555-1G>A
NM_138694.4(PKHD1):c.8648TAG[1] (p.Val2884del) rs1554221478
NM_138694.4(PKHD1):c.8797+1G>A rs2151020151
NM_138694.4(PKHD1):c.880+1G>A rs1582064292
NM_138694.4(PKHD1):c.881-1G>A rs1554220431
NM_138694.4(PKHD1):c.8871A>G (p.Ile2957Met)
NM_138694.4(PKHD1):c.8950+1G>A
NM_138694.4(PKHD1):c.8963T>A (p.Leu2988His)
NM_138694.4(PKHD1):c.9187A>T (p.Asn3063Tyr)
NM_138694.4(PKHD1):c.932C>T (p.Thr311Ile)
NM_138694.4(PKHD1):c.9460G>A (p.Asp3154Asn) rs2150983772
NM_138694.4(PKHD1):c.9473T>C (p.Met3158Thr)
NM_138694.4(PKHD1):c.9532G>T (p.Gly3178Cys)
NM_138694.4(PKHD1):c.9627C>G (p.Ser3209Arg)
NM_138694.4(PKHD1):c.9829+1dup
NM_138694.4(PKHD1):c.9830-2A>C rs890681861
NM_138694.4(PKHD1):c.9830-2A>G rs890681861
NM_138694.4(PKHD1):c.9877G>A (p.Asp3293Asn) rs1060501356
NM_138694.4(PKHD1):c.9998+1G>A
NM_138694.4(PKHD1):c.9998+1G>T rs1554217691
NM_138694.4(PKHD1):c.9999-1G>A rs2150963039

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