ClinVar Miner

List of variants studied for cystic kidney disease by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 226
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397 0.00495
NM_001009944.3(PKD1):c.8344G>A (p.Val2782Met) rs151089809 0.00054
NM_138694.4(PKHD1):c.4871G>A (p.Arg1624Gln) rs190396031 0.00053
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145 0.00044
NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val) rs45627337 0.00036
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) rs148812376 0.00032
NM_001009944.3(PKD1):c.7937T>C (p.Ile2646Thr) rs374500158 0.00029
NM_001009944.3(PKD1):c.674C>T (p.Ser225Leu) rs748021456 0.00024
NM_138694.4(PKHD1):c.12142C>T (p.Gln4048Ter) rs201812542 0.00022
NM_001009944.3(PKD1):c.1867A>C (p.Ser623Arg) rs750430411 0.00010
NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs) rs746838237 0.00010
NM_001009944.3(PKD1):c.997G>A (p.Val333Met) rs772316684 0.00009
NM_001009944.3(PKD1):c.12089C>T (p.Thr4030Ile) rs751776839 0.00008
NM_138694.4(PKHD1):c.4009G>A (p.Asp1337Asn) rs373255125 0.00008
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690 0.00008
NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr) rs760222236 0.00007
NM_001009944.3(PKD1):c.10141C>T (p.Leu3381Phe) rs142799331 0.00006
NM_001009944.3(PKD1):c.6878C>T (p.Pro2293Leu) rs530832015 0.00006
NM_001009944.3(PKD1):c.2243C>T (p.Ser748Leu) rs761540024 0.00004
NM_001009944.3(PKD1):c.7309G>A (p.Val2437Met) rs780043149 0.00004
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter) rs398124478 0.00004
NM_001009944.3(PKD1):c.2473C>T (p.Arg825Trp) rs773426104 0.00003
NM_001009944.3(PKD1):c.9814C>T (p.Arg3272Cys) rs143453080 0.00003
NM_138694.4(PKHD1):c.353del (p.Ser118fs) rs398124483 0.00003
NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter) rs201082169 0.00002
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala) rs199568593 0.00002
NM_138694.4(PKHD1):c.4199C>T (p.Ser1400Leu) rs191201723 0.00002
NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg) rs398124497 0.00002
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly) rs893497345 0.00002
NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter) rs1324209174 0.00001
NM_000297.4(PKD2):c.2533C>T (p.Arg845Ter) rs369678636 0.00001
NM_000297.4(PKD2):c.973C>T (p.Arg325Ter) rs1060503526 0.00001
NM_001009944.3(PKD1):c.2878G>A (p.Gly960Ser) rs1163700577 0.00001
NM_001009944.3(PKD1):c.3643C>G (p.Leu1215Val) rs144338515 0.00001
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs) rs1555455457 0.00001
NM_001009944.3(PKD1):c.6124G>A (p.Ala2042Thr) rs556681288 0.00001
NM_001009944.3(PKD1):c.8017-2_8017-1del rs1567180636 0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_001009944.3(PKD1):c.9202-16G>A rs1389523126 0.00001
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter) rs781368899 0.00001
NM_138694.4(PKHD1):c.11398+2T>C rs754038777 0.00001
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter) rs144193508 0.00001
NM_138694.4(PKHD1):c.12225A>T (p.Ter4075Cys) rs1347911533 0.00001
NM_138694.4(PKHD1):c.1690C>T (p.Arg564Ter) rs765251347 0.00001
NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys) rs794727366 0.00001
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile) rs747895516 0.00001
NM_138694.4(PKHD1):c.4811C>T (p.Thr1604Met) rs1370869109 0.00001
NM_138694.4(PKHD1):c.7280T>C (p.Ile2427Thr) rs398124492 0.00001
NM_138694.4(PKHD1):c.7350+653A>G rs1240212722 0.00001
NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter) rs398124500 0.00001
NM_138694.4(PKHD1):c.8935C>T (p.Arg2979Ter) rs765020336 0.00001
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter) rs786204688 0.00001
NM_198334.3(GANAB):c.2830C>T (p.Arg944Ter) rs781470089 0.00001
NM_000297.4(PKD2):c.110del (p.Gly37fs) rs2110080128
NM_000297.4(PKD2):c.1197del (p.Glu400fs) rs2110112181
NM_000297.4(PKD2):c.1349G>A (p.Gly450Asp) rs1578135842
NM_000297.4(PKD2):c.1774C>T (p.Arg592Ter) rs1553926905
NM_000297.4(PKD2):c.1790T>G (p.Leu597Arg)
NM_000297.4(PKD2):c.2159dup (p.Asn720fs) rs757757289
NM_000297.4(PKD2):c.2407C>T (p.Arg803Ter) rs778235410
NM_000297.4(PKD2):c.2475_2477del (p.Arg827del)
NM_000297.4(PKD2):c.2522+1G>T
NM_000297.4(PKD2):c.2522+1_2522+2del rs1720863460
NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter) rs755226061
NM_000297.4(PKD2):c.709+1G>A rs398123308
NM_000297.4(PKD2):c.908C>G (p.Ala303Gly)
NM_001009944.3(PKD1):c.10008_10009dup (p.Tyr3337fs)
NM_001009944.3(PKD1):c.10087C>T (p.Gln3363Ter) rs2151729320
NM_001009944.3(PKD1):c.10118C>A (p.Ser3373Ter)
NM_001009944.3(PKD1):c.10167+25_10167+43del rs1197421698
NM_001009944.3(PKD1):c.10280dup (p.Ser3428fs) rs2151726918
NM_001009944.3(PKD1):c.10459dup (p.Thr3487fs) rs2151725680
NM_001009944.3(PKD1):c.10583G>A (p.Trp3528Ter) rs1057516041
NM_001009944.3(PKD1):c.10724G>A (p.Trp3575Ter) rs1361283193
NM_001009944.3(PKD1):c.10748del (p.Gly3583fs) rs2151708652
NM_001009944.3(PKD1):c.10785C>A (p.Ser3595Arg)
NM_001009944.3(PKD1):c.10810G>A (p.Glu3604Lys) rs2091722550
NM_001009944.3(PKD1):c.10822-3C>G
NM_001009944.3(PKD1):c.10973A>G (p.Lys3658Arg)
NM_001009944.3(PKD1):c.10G>C (p.Ala4Pro)
NM_001009944.3(PKD1):c.11017-25A>C rs2151704874
NM_001009944.3(PKD1):c.11017-25A>G
NM_001009944.3(PKD1):c.11258G>A (p.Arg3753Gln) rs1555446330
NM_001009944.3(PKD1):c.11411+5G>A
NM_001009944.3(PKD1):c.11538-2A>C
NM_001009944.3(PKD1):c.11623del (p.Ala3875fs) rs2151695526
NM_001009944.3(PKD1):c.11693C>A (p.Ser3898Ter) rs2091572700
NM_001009944.3(PKD1):c.11713-3C>A
NM_001009944.3(PKD1):c.11935C>T (p.Gln3979Ter)
NM_001009944.3(PKD1):c.11962C>T (p.Arg3988Cys) rs747425659
NM_001009944.3(PKD1):c.11988_11996del (p.Phe3996_Leu3998del)
NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter) rs766551411
NM_001009944.3(PKD1):c.12035G>A (p.Trp4012Ter) rs777269070
NM_001009944.3(PKD1):c.12057_12061dup (p.Arg4021fs)
NM_001009944.3(PKD1):c.12061C>T (p.Arg4021Ter) rs764431330
NM_001009944.3(PKD1):c.12205A>G (p.Thr4069Ala)
NM_001009944.3(PKD1):c.12334G>C (p.Ala4112Pro)
NM_001009944.3(PKD1):c.12444+1G>A rs2091431794
NM_001009944.3(PKD1):c.12445-17_12445-3del rs2151678927
NM_001009944.3(PKD1):c.12596_12612del (p.Val4199fs)
NM_001009944.3(PKD1):c.12657dup (p.Glu4220fs) rs2151676915
NM_001009944.3(PKD1):c.1265TGG[2] (p.Val424del) rs1596588396
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter) rs755496450
NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter) rs1045675831
NM_001009944.3(PKD1):c.12721C>T (p.Gln4241Ter) rs2091391674
NM_001009944.3(PKD1):c.12878G>A (p.Arg4293Gln)
NM_001009944.3(PKD1):c.1385+1G>T
NM_001009944.3(PKD1):c.1396G>A (p.Val466Met) rs2855341
NM_001009944.3(PKD1):c.165_171del (p.Leu56fs) rs1555462438
NM_001009944.3(PKD1):c.1660C>T (p.Gln554Ter)
NM_001009944.3(PKD1):c.1987C>T (p.Gln663Ter)
NM_001009944.3(PKD1):c.2085dup (p.Ala696fs) rs1567212531
NM_001009944.3(PKD1):c.2139C>A (p.Asp713Glu)
NM_001009944.3(PKD1):c.2170G>T (p.Gly724Cys)
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.2239G>A (p.Ala747Thr)
NM_001009944.3(PKD1):c.2968_2969delinsT (p.Ala990fs)
NM_001009944.3(PKD1):c.3162-1G>C
NM_001009944.3(PKD1):c.3308T>G (p.Leu1103Arg) rs2151801930
NM_001009944.3(PKD1):c.3381_3387dup (p.Ala1130fs)
NM_001009944.3(PKD1):c.3812_3813del (p.Thr1271fs)
NM_001009944.3(PKD1):c.3883G>T (p.Glu1295Ter) rs780119305
NM_001009944.3(PKD1):c.4047C>G (p.Phe1349Leu) rs770459654
NM_001009944.3(PKD1):c.4070del (p.Leu1357fs) rs1596560540
NM_001009944.3(PKD1):c.4105dup (p.His1369fs)
NM_001009944.3(PKD1):c.4121T>A (p.Ile1374Asn)
NM_001009944.3(PKD1):c.416G>T (p.Trp139Leu)
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter) rs1567200516
NM_001009944.3(PKD1):c.4444C>T (p.Gln1482Ter) rs1567200117
NM_001009944.3(PKD1):c.4451C>T (p.Pro1484Leu)
NM_001009944.3(PKD1):c.4500G>C (p.Trp1500Cys)
NM_001009944.3(PKD1):c.4507G>A (p.Gly1503Arg) rs2092478372
NM_001009944.3(PKD1):c.4572_4574del (p.Val1525del)
NM_001009944.3(PKD1):c.4617G>A (p.Trp1539Ter) rs2151796950
NM_001009944.3(PKD1):c.4650dup (p.Leu1551fs)
NM_001009944.3(PKD1):c.4795dup (p.Tyr1599fs)
NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del) rs1567198691
NM_001009944.3(PKD1):c.4888C>T (p.Gln1630Ter)
NM_001009944.3(PKD1):c.4919_4925dup (p.Tyr1643fs)
NM_001009944.3(PKD1):c.5759G>A (p.Arg1920His)
NM_001009944.3(PKD1):c.5776del (p.Ala1926fs) rs2092444151
NM_001009944.3(PKD1):c.6115del (p.Gln2039fs)
NM_001009944.3(PKD1):c.6137del (p.Leu2046fs) rs2092433875
NM_001009944.3(PKD1):c.6288_6289del (p.Phe2096fs)
NM_001009944.3(PKD1):c.6382A>G (p.Asn2128Asp) rs2151788281
NM_001009944.3(PKD1):c.6394TTC[1] (p.Phe2133del) rs1555454460
NM_001009944.3(PKD1):c.6512C>A (p.Ala2171Asp)
NM_001009944.3(PKD1):c.6795C>G (p.Tyr2265Ter) rs1312494071
NM_001009944.3(PKD1):c.7008C>G (p.Tyr2336Ter) rs2092401442
NM_001009944.3(PKD1):c.7013T>G (p.Phe2338Cys)
NM_001009944.3(PKD1):c.7108T>C (p.Cys2370Arg) rs1567187445
NM_001009944.3(PKD1):c.7113_7114dup (p.Ser2372fs)
NM_001009944.3(PKD1):c.7139_7145del (p.Glu2380fs) rs2092356759
NM_001009944.3(PKD1):c.7271C>T (p.Thr2424Met) rs1367567191
NM_001009944.3(PKD1):c.7324G>A (p.Glu2442Lys)
NM_001009944.3(PKD1):c.7381G>A (p.Ala2461Thr)
NM_001009944.3(PKD1):c.7390C>T (p.Arg2464Cys)
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys) rs797044902
NM_001009944.3(PKD1):c.7642G>T (p.Glu2548Ter) rs28369051
NM_001009944.3(PKD1):c.7816C>T (p.Gln2606Ter) rs2092321142
NM_001009944.3(PKD1):c.7833_7835del (p.Tyr2611_Ser2612delinsTer)
NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys) rs1452322332
NM_001009944.3(PKD1):c.7949T>C (p.Leu2650Pro)
NM_001009944.3(PKD1):c.8072T>G (p.Leu2691Arg)
NM_001009944.3(PKD1):c.8267C>T (p.Thr2756Ile)
NM_001009944.3(PKD1):c.8276T>C (p.Leu2759Pro)
NM_001009944.3(PKD1):c.8279T>C (p.Met2760Thr) rs879809222
NM_001009944.3(PKD1):c.8284_8295dup (p.Ile2762_Arg2765dup) rs1596527370
NM_001009944.3(PKD1):c.8291T>C (p.Met2764Thr) rs1596527405
NM_001009944.3(PKD1):c.8299C>T (p.Arg2767Cys) rs2092203712
NM_001009944.3(PKD1):c.8327_8339dup (p.Glu2780fs)
NM_001009944.3(PKD1):c.8471A>G (p.Gln2824Arg)
NM_001009944.3(PKD1):c.8645G>A (p.Trp2882Ter)
NM_001009944.3(PKD1):c.8756G>A (p.Gly2919Glu)
NM_001009944.3(PKD1):c.8769G>C (p.Gln2923His)
NM_001009944.3(PKD1):c.8791G>A (p.Gly2931Ser)
NM_001009944.3(PKD1):c.9051C>A (p.Tyr3017Ter)
NM_001009944.3(PKD1):c.9100GAG[1] (p.Glu3035del)
NM_001009944.3(PKD1):c.9383G>A (p.Trp3128Ter)
NM_001009944.3(PKD1):c.9401C>T (p.Thr3134Ile) rs2092053154
NM_001009944.3(PKD1):c.9559G>T (p.Asp3187Tyr)
NM_001009944.3(PKD1):c.9559_9561del (p.Asp3187del)
NM_001009944.3(PKD1):c.9602_9607del (p.Ile3201_Val3202del)
NM_001009944.3(PKD1):c.9634_9635delinsGC (p.Phe3212Ala) rs1085307551
NM_001009944.3(PKD1):c.9683dup (p.Leu3229fs) rs2151740671
NM_001009944.3(PKD1):c.9874del (p.Leu3292fs)
NM_003361.4(UMOD):c.115G>C (p.Ala39Pro) rs1245943973
NM_003361.4(UMOD):c.1189G>A (p.Glu397Lys)
NM_003361.4(UMOD):c.150C>G (p.Cys50Trp) rs1965764292
NM_003361.4(UMOD):c.278_289delinsCCGCCTCCT (p.Val93_Gly97delinsAlaAlaSerCys) rs878855325
NM_003361.4(UMOD):c.317G>A (p.Cys106Tyr) rs398123697
NM_003361.4(UMOD):c.544G>A (p.Glu182Lys)
NM_003361.4(UMOD):c.548A>G (p.Tyr183Cys) rs1064796542
NM_016306.6(DNAJB11):c.151C>T (p.Gln51Ter)
NM_138694.4(PKHD1):c.10075G>C (p.Gly3359Arg)
NM_138694.4(PKHD1):c.10109dup (p.Phe3371fs) rs1057517071
NM_138694.4(PKHD1):c.10315G>T (p.Asp3439Tyr)
NM_138694.4(PKHD1):c.11468C>G (p.Ser3823Ter) rs2150329160
NM_138694.4(PKHD1):c.1166C>T (p.Thr389Ile)
NM_138694.4(PKHD1):c.1602+1G>A rs398124476
NM_138694.4(PKHD1):c.166T>C (p.Ser56Pro)
NM_138694.4(PKHD1):c.2179A>G (p.Asn727Asp)
NM_138694.4(PKHD1):c.2192C>A (p.Ser731Ter) rs1057516608
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp) rs370277502
NM_138694.4(PKHD1):c.2770C>T (p.Gln924Ter)
NM_138694.4(PKHD1):c.2948G>A (p.Cys983Tyr) rs1554208064
NM_138694.4(PKHD1):c.3373A>G (p.Thr1125Ala) rs144365187
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs) rs398124484
NM_138694.4(PKHD1):c.5230A>C (p.Asn1744His) rs2128141336
NM_138694.4(PKHD1):c.5236G>C (p.Gly1746Arg) rs745387993
NM_138694.4(PKHD1):c.528-2A>G
NM_138694.4(PKHD1):c.5358C>G (p.Ser1786Arg)
NM_138694.4(PKHD1):c.5751+3A>G rs1581726525
NM_138694.4(PKHD1):c.619G>T (p.Asp207Tyr)
NM_138694.4(PKHD1):c.6332+2T>A rs1783090781
NM_138694.4(PKHD1):c.712A>G (p.Met238Val)
NM_138694.4(PKHD1):c.8863C>T (p.Arg2955Ter) rs1229564017
NM_138694.4(PKHD1):c.8864G>A (p.Arg2955Gln)
NM_138694.4(PKHD1):c.930del (p.Thr311fs) rs398124501
NM_138694.4(PKHD1):c.9705T>A (p.Asn3235Lys) rs759568939
NM_138694.4(PKHD1):c.9715G>A (p.Gly3239Ser)
NM_138694.4(PKHD1):c.977-2A>G
NM_138694.4(PKHD1):c.9825del (p.Gln3276fs)
NM_198334.3(GANAB):c.1787G>A (p.Arg596His)
NM_198334.3(GANAB):c.428C>A (p.Ala143Asp)

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