ClinVar Miner

List of variants in gene PKD1 reported by Cavalleri Lab, Royal College of Surgeons in Ireland

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.12460C>T (p.Arg4154Cys) rs115538130 0.00178
NM_001009944.3(PKD1):c.9898G>A (p.Gly3300Arg) rs777024498 0.00012
NM_001009944.3(PKD1):c.7065+9C>T rs765688834 0.00004
NM_001009944.3(PKD1):c.1193C>T (p.Pro398Leu) rs1183794501 0.00001
NM_001009944.3(PKD1):c.2878G>A (p.Gly960Ser) rs1163700577 0.00001
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs) rs1555455457 0.00001
NM_001009944.3(PKD1):c.1004_1019del (p.Ala335fs) rs2092667308
NM_001009944.3(PKD1):c.10942C>A (p.Pro3648Thr) rs2091706456
NM_001009944.3(PKD1):c.10946C>A (p.Pro3649His) rs2091706289
NM_001009944.3(PKD1):c.11119C>T (p.Gln3707Ter) rs2091668243
NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln) rs1327414405
NM_001009944.3(PKD1):c.11258G>A (p.Arg3753Gln) rs1555446330
NM_001009944.3(PKD1):c.11311_11312dup (p.Ala3772fs) rs2091620763
NM_001009944.3(PKD1):c.11343C>G (p.Tyr3781Ter) rs2091619053
NM_001009944.3(PKD1):c.11377_11395dup (p.Ala3799fs) rs2091614437
NM_001009944.3(PKD1):c.11411+1G>C rs2091612821
NM_001009944.3(PKD1):c.11454del (p.Tyr3819fs) rs2091600536
NM_001009944.3(PKD1):c.11525G>A (p.Trp3842Ter) rs1596481464
NM_001009944.3(PKD1):c.11563_11564del (p.Thr3855fs) rs1555445585
NM_001009944.3(PKD1):c.11614G>C (p.Glu3872Gln) rs2091577195
NM_001009944.3(PKD1):c.11716T>C (p.Cys3906Arg) rs2091502521
NM_001009944.3(PKD1):c.1171dup (p.Ile391fs) rs2092665584
NM_001009944.3(PKD1):c.11752G>T (p.Glu3918Ter) rs1555445229
NM_001009944.3(PKD1):c.11984dup (p.Phe3996fs) rs2091483332
NM_001009944.3(PKD1):c.12039_12040insAC (p.Val4014fs) rs2091472604
NM_001009944.3(PKD1):c.12139-2A>C rs2091453268
NM_001009944.3(PKD1):c.12386T>G (p.Met4129Arg) rs2091436717
NM_001009944.3(PKD1):c.12465T>G (p.Phe4155Leu) rs2091413514
NM_001009944.3(PKD1):c.12604_12631del (p.Gly4202fs) rs2091400717
NM_001009944.3(PKD1):c.12673C>T (p.Gln4225Ter) rs2091395464
NM_001009944.3(PKD1):c.12682C>T (p.Arg4228Ter) rs199476095
NM_001009944.3(PKD1):c.1303C>T (p.Gln435Ter) rs2092660457
NM_001009944.3(PKD1):c.1385G>A (p.Arg462Lys) rs2092659023
NM_001009944.3(PKD1):c.1606+5G>A rs2092646077
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp) rs1555458413
NM_001009944.3(PKD1):c.195_196insGACC (p.Pro66fs) rs2092939979
NM_001009944.3(PKD1):c.2032del (p.Ala678fs) rs2092615974
NM_001009944.3(PKD1):c.2085del (p.Ala696fs) rs1567212531
NM_001009944.3(PKD1):c.2097+2T>C rs2092614697
NM_001009944.3(PKD1):c.2097+5G>A rs2092614616
NM_001009944.3(PKD1):c.2101_2102dup (p.Leu702fs) rs2092604612
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.2376_2382del (p.Pro793fs) rs2092599090
NM_001009944.3(PKD1):c.2396_2421del (p.Arg799fs) rs2092598385
NM_001009944.3(PKD1):c.2534T>A (p.Leu845Ter) rs199476100
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100
NM_001009944.3(PKD1):c.288-2A>G rs2092684358
NM_001009944.3(PKD1):c.2986-1G>A rs2092557654
NM_001009944.3(PKD1):c.301A>G (p.Asn101Asp) rs2092684149
NM_001009944.3(PKD1):c.3184C>T (p.Gln1062Ter) rs1231492796
NM_001009944.3(PKD1):c.3349C>T (p.Gln1117Ter) rs755084885
NM_001009944.3(PKD1):c.348_352del (p.Asn116fs) rs2092683596
NM_001009944.3(PKD1):c.3684del (p.Val1229fs) rs2092503653
NM_001009944.3(PKD1):c.3696CGC[1] (p.Ala1234del) rs2092503169
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del) rs1567202750
NM_001009944.3(PKD1):c.4082T>C (p.Leu1361Pro) rs2092490160
NM_001009944.3(PKD1):c.4222_4232dup (p.Tyr1412fs) rs2092485909
NM_001009944.3(PKD1):c.439dup (p.Val147fs) rs2092679105
NM_001009944.3(PKD1):c.4452del (p.Tyr1485fs) rs2092479999
NM_001009944.3(PKD1):c.4654del (p.Val1552fs) rs2047525622
NM_001009944.3(PKD1):c.4782del (p.Pro1595fs) rs2092471431
NM_001009944.3(PKD1):c.5142del (p.Phe1714fs) rs2092458566
NM_001009944.3(PKD1):c.6199C>T (p.Gln2067Ter) rs1555454604
NM_001009944.3(PKD1):c.6367C>T (p.Gln2123Ter) rs762911981
NM_001009944.3(PKD1):c.6493C>T (p.Gln2165Ter) rs1485307916
NM_001009944.3(PKD1):c.6727_6728del (p.Gln2243fs) rs1567191601
NM_001009944.3(PKD1):c.6739G>C (p.Ala2247Pro) rs749515571
NM_001009944.3(PKD1):c.6846C>A (p.Tyr2282Ter) rs546354639
NM_001009944.3(PKD1):c.6994_7000dup (p.Val2334fs) rs1555453872
NM_001009944.3(PKD1):c.711del (p.Ser238fs) rs2092672595
NM_001009944.3(PKD1):c.7300C>T (p.Arg2434Trp) rs151257298
NM_001009944.3(PKD1):c.7303_7317del (p.Arg2435_Arg2439del) rs2092343570
NM_001009944.3(PKD1):c.7369G>T (p.Glu2457Ter) rs2092341848
NM_001009944.3(PKD1):c.7495del (p.His2499fs) rs2092333316
NM_001009944.3(PKD1):c.7833C>G (p.Tyr2611Ter) rs138871063
NM_001009944.3(PKD1):c.7903G>T (p.Glu2635Ter) rs778979740
NM_001009944.3(PKD1):c.7987C>T (p.Gln2663Ter) rs1567182193
NM_001009944.3(PKD1):c.8008C>T (p.Gln2670Ter) rs2092301272
NM_001009944.3(PKD1):c.8017-1G>C rs2092263886
NM_001009944.3(PKD1):c.8045C>A (p.Ser2682Ter) rs151308544
NM_001009944.3(PKD1):c.8056C>T (p.Gln2686Ter) rs779516086
NM_001009944.3(PKD1):c.8234_8235insCGTCACCATC (p.Arg2746fs) rs2092206577
NM_001009944.3(PKD1):c.8284_8295del (p.Ile2762_Arg2765del) rs1596527370
NM_001009944.3(PKD1):c.8299C>T (p.Arg2767Cys) rs2092203712
NM_001009944.3(PKD1):c.9143T>G (p.Leu3048Arg) rs1596522098
NM_001009944.3(PKD1):c.9298C>T (p.Gln3100Ter) rs1596520985
NM_001009944.3(PKD1):c.9395C>T (p.Ser3132Leu) rs2092119222
NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met) rs1555449635
NM_001009944.3(PKD1):c.9425T>C (p.Leu3142Pro) rs2092051851
NM_001009944.3(PKD1):c.9736del (p.Arg3246fs) rs2092026801
NM_001009944.3(PKD1):c.974A>G (p.Tyr325Cys) rs1232180956
NM_001009944.3(PKD1):c.9856CTC[1] (p.Leu3287del) rs2092020811
NM_001009944.3(PKD1):c.99C>A (p.Cys33Ter) rs2092941253

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