ClinVar Miner

List of variants in gene PKD1 reported by Blueprint Genetics

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 82
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HGVS dbSNP
NM_001009944.3(PKD1):c.10247del (p.Gly3416fs) rs1596501702
NM_001009944.3(PKD1):c.10377C>G (p.Tyr3459Ter) rs1596501163
NM_001009944.3(PKD1):c.10407T>A (p.Asp3469Glu) rs373139880
NM_001009944.3(PKD1):c.10420C>T (p.Gln3474Ter) rs1064794206
NM_001009944.3(PKD1):c.1097C>A (p.Ser366Ter) rs752356523
NM_001009944.3(PKD1):c.11880C>A (p.Asp3960Glu) rs754037517
NM_001009944.3(PKD1):c.11921_11942dup (p.Gln3982_Leu3983insHisTer) rs1596476300
NM_001009944.3(PKD1):c.12003+14_12003+33del rs1567148835
NM_001009944.3(PKD1):c.12003+5G>T rs1596476034
NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter) rs766551411
NM_001009944.3(PKD1):c.1202-9G>A rs1596588606
NM_001009944.3(PKD1):c.12044_12068del (p.Phe4015fs) rs1596475245
NM_001009944.3(PKD1):c.12061C>T (p.Arg4021Ter) rs764431330
NM_001009944.3(PKD1):c.12139-3C>G rs746284946
NM_001009944.3(PKD1):c.12166_12167del (p.Trp4056fs) rs1596474115
NM_001009944.3(PKD1):c.12344dup (p.Glu4116fs) rs1596473434
NM_001009944.3(PKD1):c.12676_12693del (p.Phe4226_Gln4231del) rs1596471581
NM_001009944.3(PKD1):c.12682C>T (p.Arg4228Ter) rs199476095
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter) rs755496450
NM_001009944.3(PKD1):c.12699_12700AG[1] (p.Glu4234fs) rs1596471547
NM_001009944.3(PKD1):c.1295C>T (p.Ala432Val) rs1060499699
NM_001009944.3(PKD1):c.1325C>T (p.Ala442Val) rs1596588261
NM_001009944.3(PKD1):c.1591G>A (p.Glu531Lys) rs1567215326
NM_001009944.3(PKD1):c.2012C>G (p.Ser671Ter) rs779227133
NM_001009944.3(PKD1):c.2085dup (p.Ala696fs) rs1567212531
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.2444T>C (p.Phe815Ser) rs1596576453
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100
NM_001009944.3(PKD1):c.2618_2621del (p.Val873fs) rs1596575646
NM_001009944.3(PKD1):c.2732T>G (p.Val911Gly) rs1596575196
NM_001009944.3(PKD1):c.285G>T (p.Glu95Asp) rs1305213807
NM_001009944.3(PKD1):c.296G>T (p.Ser99Ile) rs1567219544
NM_001009944.3(PKD1):c.3043C>T (p.Arg1015Trp) rs751946869
NM_001009944.3(PKD1):c.3200T>C (p.Phe1067Ser) rs1596566400
NM_001009944.3(PKD1):c.3205C>T (p.Pro1069Ser) rs754703070
NM_001009944.3(PKD1):c.3655A>G (p.Met1219Val) rs139100448
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg) rs747362311
NM_001009944.3(PKD1):c.3961C>T (p.Pro1321Ser) rs772389436
NM_001009944.3(PKD1):c.4070del (p.Leu1357fs) rs1596560540
NM_001009944.3(PKD1):c.412C>T (p.Arg138Ter) rs1596591955
NM_001009944.3(PKD1):c.4187A>T (p.Asp1396Val) rs1413875287
NM_001009944.3(PKD1):c.4340C>A (p.Ala1447Glu) rs76981724
NM_001009944.3(PKD1):c.4447C>T (p.Gln1483Ter) rs1567200098
NM_001009944.3(PKD1):c.4551C>A (p.Tyr1517Ter) rs1238351274
NM_001009944.3(PKD1):c.4616G>A (p.Trp1539Ter) rs1596558405
NM_001009944.3(PKD1):c.4901G>T (p.Gly1634Val) rs768244952
NM_001009944.3(PKD1):c.4910T>G (p.Val1637Gly) rs1200234003
NM_001009944.3(PKD1):c.4957C>T (p.Gln1653Ter) rs1596557065
NM_001009944.3(PKD1):c.4968T>C (p.Val1656=) rs777909326
NM_001009944.3(PKD1):c.4984G>A (p.Val1662Ile) rs766683298
NM_001009944.3(PKD1):c.4988_4990del (p.Ser1663del) rs1596556896
NM_001009944.3(PKD1):c.5279G>A (p.Trp1760Ter) rs1596555896
NM_001009944.3(PKD1):c.5411del (p.Gly1804fs) rs1596555413
NM_001009944.3(PKD1):c.5984G>C (p.Arg1995Pro) rs752388015
NM_001009944.3(PKD1):c.5999C>G (p.Ser2000Cys) rs1596553232
NM_001009944.3(PKD1):c.6199C>T (p.Gln2067Ter) rs1555454604
NM_001009944.3(PKD1):c.6394_6396TTC[1] (p.Phe2133del) rs1555454460
NM_001009944.3(PKD1):c.6725_6726CA[1] (p.Gln2243fs) rs1567191601
NM_001009944.3(PKD1):c.6752_6754del (p.Val2251del) rs1596550396
NM_001009944.3(PKD1):c.7204C>T (p.Arg2402Ter) rs1567186946
NM_001009944.3(PKD1):c.7470_7475del (p.Lys2490_His2492delinsAsn) rs1596541230
NM_001009944.3(PKD1):c.7587G>C (p.Lys2529Asn) rs139652960
NM_001009944.3(PKD1):c.7856T>G (p.Leu2619Arg) rs1596538804
NM_001009944.3(PKD1):c.7915C>T (p.Arg2639Ter) rs750913623
NM_001009944.3(PKD1):c.7984C>T (p.Gln2662Ter) rs757768731
NM_001009944.3(PKD1):c.8016+2T>C rs1596536505
NM_001009944.3(PKD1):c.8112_8132del (p.Gly2705_Ala2711del) rs1596532130
NM_001009944.3(PKD1):c.8284_8295del (p.Ile2762_Arg2765del) rs1596527370
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897
NM_001009944.3(PKD1):c.8615T>A (p.Ile2872Asn) rs1596526236
NM_001009944.3(PKD1):c.8933T>C (p.Phe2978Ser) rs1596523677
NM_001009944.3(PKD1):c.8973C>A (p.Tyr2991Ter) rs1596522636
NM_001009944.3(PKD1):c.9077G>C (p.Arg3026Pro) rs576970336
NM_001009944.3(PKD1):c.9185T>G (p.Val3062Gly) rs1057518856
NM_001009944.3(PKD1):c.9201+5G>A rs1596521826
NM_001009944.3(PKD1):c.9298C>T (p.Gln3100Ter) rs1596520985
NM_001009944.3(PKD1):c.9431G>C (p.Gly3144Ala) rs1596515137
NM_001009944.3(PKD1):c.9527T>A (p.Leu3176Gln) rs1596514809
NM_001009944.3(PKD1):c.974A>G (p.Tyr325Cys) rs1232180956
NM_001009944.3(PKD1):c.9826_9829del (p.Thr3276fs) rs1596512729
NM_001009944.3(PKD1):c.9853G>A (p.Val3285Ile) rs201780393
NM_001009944.3(PKD1):c.9925A>C (p.Thr3309Pro) rs1596511656

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