List of variants in gene PKD1 reported as pathogenic for Polycystic kidney disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 119

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HGVS	dbSNP	gnomAD frequency
NM_001009944.3(PKD1):c.1198C>T (p.Arg400Ter)	rs774453006	0.00001
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs)	rs1555455457	0.00001
NM_001009944.3(PKD1):c.8017-2_8017-1del	rs1567180636	0.00001
NM_001009944.2(PKD1):c.12004delG	rs2091475541
NM_001009944.3(PKD1):c.10031del (p.Phe3344fs)	rs2092006545
NM_001009944.3(PKD1):c.10084C>T (p.Gln3362Ter)	rs1567166045
NM_001009944.3(PKD1):c.10725G>A (p.Trp3575Ter)	rs1177764199
NM_001009944.3(PKD1):c.10729_10732dup (p.Ala3578fs)
NM_001009944.3(PKD1):c.10733del (p.Ala3578fs)	rs2091725538
NM_001009944.3(PKD1):c.108del (p.Cys37fs)	rs2092941062
NM_001009944.3(PKD1):c.11157-1G>A	rs2091646317
NM_001009944.3(PKD1):c.11178G>A (p.Trp3726Ter)	rs2091645594
NM_001009944.3(PKD1):c.111C>A (p.Cys37Ter)	rs2092941027
NM_001009944.3(PKD1):c.11215C>T (p.Gln3739Ter)	rs1567155145
NM_001009944.3(PKD1):c.11313_11314insCCCG (p.Ala3772fs)	rs2091620545
NM_001009944.3(PKD1):c.11388del (p.Tyr3797fs)	rs2091615030
NM_001009944.3(PKD1):c.11461C>T (p.Gln3821Ter)	rs1325300747
NM_001009944.3(PKD1):c.11552del (p.Phe3851fs)	rs2091580617
NM_001009944.3(PKD1):c.11712+2T>C	rs2091571271
NM_001009944.3(PKD1):c.11766G>A (p.Trp3922Ter)	rs2091498706
NM_001009944.3(PKD1):c.11784G>A (p.Trp3928Ter)	rs759035704
NM_001009944.3(PKD1):c.11798_11810del (p.Leu3933fs)	rs1555445192
NM_001009944.3(PKD1):c.11853dup (p.Arg3952fs)	rs2091493781
NM_001009944.3(PKD1):c.11884C>T (p.Gln3962Ter)	rs1596476503
NM_001009944.3(PKD1):c.11889G>A (p.Trp3963Ter)	rs2091491322
NM_001009944.3(PKD1):c.12007del (p.Ala4003fs)	rs2091475296
NM_001009944.3(PKD1):c.1201+1G>A	rs1596588978
NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter)	rs766551411
NM_001009944.3(PKD1):c.12031C>T (p.Gln4011Ter)	rs1555444985
NM_001009944.3(PKD1):c.12035G>A (p.Trp4012Ter)	rs777269070
NM_001009944.3(PKD1):c.12061C>T (p.Arg4021Ter)	rs764431330
NM_001009944.3(PKD1):c.12178C>T (p.Gln4060Ter)	rs2091450305
NM_001009944.3(PKD1):c.12373C>T (p.Gln4125Ter)	rs2091437893
NM_001009944.3(PKD1):c.12514del (p.Ser4172fs)	rs1555444225
NM_001009944.3(PKD1):c.12658G>T (p.Glu4220Ter)	rs2091397048
NM_001009944.3(PKD1):c.12721C>T (p.Gln4241Ter)	rs2091391674
NM_001009944.3(PKD1):c.1391del (p.Leu464fs)	rs2092649198
NM_001009944.3(PKD1):c.165_171del (p.Leu56fs)	rs1555462438
NM_001009944.3(PKD1):c.1810C>T (p.Gln604Ter)	rs2092629130
NM_001009944.3(PKD1):c.1849+1G>T	rs2092628618
NM_001009944.3(PKD1):c.195_196insGACC (p.Pro66fs)	rs2092939979
NM_001009944.3(PKD1):c.2113C>T (p.Gln705Ter)	rs2092604224
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)	rs1616940
NM_001009944.3(PKD1):c.2215C>T (p.Arg739Trp)	rs747483368
NM_001009944.3(PKD1):c.2250G>A (p.Trp750Ter)	rs2092601367
NM_001009944.3(PKD1):c.2376_2382del (p.Pro793fs)	rs2092599090
NM_001009944.3(PKD1):c.2528C>G (p.Ser843Ter)	rs2092596212
NM_001009944.3(PKD1):c.2605del (p.Arg869fs)	rs2092594790
NM_001009944.3(PKD1):c.2660G>A (p.Trp887Ter)	rs769587438
NM_001009944.3(PKD1):c.2777_2789del (p.Val926fs)	rs2092590647
NM_001009944.3(PKD1):c.290del (p.Asp97fs)	rs2092684328
NM_001009944.3(PKD1):c.2914A>T (p.Lys972Ter)	rs2092566273
NM_001009944.3(PKD1):c.2932C>T (p.Gln978Ter)	rs1555457446
NM_001009944.3(PKD1):c.2986-1G>A	rs2092557654
NM_001009944.3(PKD1):c.304A>T (p.Lys102Ter)	rs2092684104
NM_001009944.3(PKD1):c.3202C>T (p.Gln1068Ter)	rs2092538738
NM_001009944.3(PKD1):c.3295+2T>G	rs2092536098
NM_001009944.3(PKD1):c.3346C>T (p.Gln1116Ter)	rs1596563657
NM_001009944.3(PKD1):c.348_352del (p.Asn116fs)	rs2092683596
NM_001009944.3(PKD1):c.3572_3573insA (p.Glu1192fs)	rs2092507274
NM_001009944.3(PKD1):c.359+2T>G	rs2092683440
NM_001009944.3(PKD1):c.3601del (p.Ala1201fs)	rs2092506499
NM_001009944.3(PKD1):c.3728G>A (p.Trp1243Ter)	rs2092501974
NM_001009944.3(PKD1):c.4041_4042del (p.His1347fs)	rs2092491511
NM_001009944.3(PKD1):c.4168C>T (p.Gln1390Ter)	rs2092487764
NM_001009944.3(PKD1):c.4197G>A (p.Trp1399Ter)	rs890465248
NM_001009944.3(PKD1):c.4276_4277delinsA (p.Ala1426fs)	rs2092484442
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter)	rs1567200516
NM_001009944.3(PKD1):c.4461del (p.Ser1488fs)	rs1555455998
NM_001009944.3(PKD1):c.4906C>T (p.Gln1636Ter)	rs1596557266
NM_001009944.3(PKD1):c.5047_5051del (p.Phe1683fs)	rs2092460746
NM_001009944.3(PKD1):c.5086C>T (p.Gln1696Ter)	rs1057518783
NM_001009944.3(PKD1):c.5221G>T (p.Glu1741Ter)	rs2092456617
NM_001009944.3(PKD1):c.5301del (p.Thr1768fs)	rs2092454886
NM_001009944.3(PKD1):c.5510G>A (p.Trp1837Ter)	rs2092450284
NM_001009944.3(PKD1):c.5776del (p.Ala1926fs)	rs2092444151
NM_001009944.3(PKD1):c.5803del (p.Arg1935fs)	rs2092443264
NM_001009944.3(PKD1):c.5886_5893del (p.Gln1962fs)	rs2092440281
NM_001009944.3(PKD1):c.5923C>T (p.Gln1975Ter)	rs2092439541
NM_001009944.3(PKD1):c.6021C>A (p.Tyr2007Ter)	rs147391291
NM_001009944.3(PKD1):c.6147_6148del (p.Asn2050fs)	rs2092433535
NM_001009944.3(PKD1):c.6197_6209del (p.Leu2066fs)	rs2092431000
NM_001009944.3(PKD1):c.6199C>T (p.Gln2067Ter)	rs1555454604
NM_001009944.3(PKD1):c.6307C>T (p.Gln2103Ter)	rs1555454512
NM_001009944.3(PKD1):c.6323_6330delinsACTCCTACCT (p.Pro2108fs)	rs2092427579
NM_001009944.3(PKD1):c.6367C>T (p.Gln2123Ter)	rs762911981
NM_001009944.3(PKD1):c.6406C>T (p.Gln2136Ter)	rs2092425533
NM_001009944.3(PKD1):c.6472C>T (p.Gln2158Ter)	rs2092423837
NM_001009944.3(PKD1):c.6560G>A (p.Trp2187Ter)	rs1161210869
NM_001009944.3(PKD1):c.6574_6580del (p.Thr2192fs)	rs2092420672
NM_001009944.3(PKD1):c.6583_6589del (p.Cys2195fs)	rs1555454353
NM_001009944.3(PKD1):c.7137C>G (p.Tyr2379Ter)	rs752114168
NM_001009944.3(PKD1):c.7174del (p.Arg2392fs)	rs1555453360
NM_001009944.3(PKD1):c.7204C>T (p.Arg2402Ter)	rs1567186946
NM_001009944.3(PKD1):c.7288C>T (p.Arg2430Ter)	rs2432403
NM_001009944.3(PKD1):c.7327G>T (p.Gly2443Ter)	rs1567186165
NM_001009944.3(PKD1):c.7421del (p.Gly2474fs)	rs1237714286
NM_001009944.3(PKD1):c.7666C>T (p.Gln2556Ter)	rs1567184366
NM_001009944.3(PKD1):c.7749del (p.Leu2584fs)	rs2092323231
NM_001009944.3(PKD1):c.7804C>T (p.Gln2602Ter)	rs2092321430
NM_001009944.3(PKD1):c.7818dup (p.His2607fs)	rs1555452653
NM_001009944.3(PKD1):c.7863+1del	rs2092319664
NM_001009944.3(PKD1):c.7864-1G>T	rs2092305301
NM_001009944.3(PKD1):c.7973_7974del (p.Val2658fs)	rs2092302256
NM_001009944.3(PKD1):c.8017-1G>C	rs2092263886
NM_001009944.3(PKD1):c.8095C>T (p.Gln2699Ter)	rs1222094213
NM_001009944.3(PKD1):c.8116_8125del (p.Thr2706fs)	rs2092260381
NM_001009944.3(PKD1):c.8299C>T (p.Arg2767Cys)	rs2092203712
NM_001009944.3(PKD1):c.8388T>G (p.Tyr2796Ter)	rs2092200060
NM_001009944.3(PKD1):c.8470C>T (p.Gln2824Ter)	rs2092196354
NM_001009944.3(PKD1):c.8545del (p.Ala2849fs)	rs1555451093
NM_001009944.3(PKD1):c.856_862del (p.Ser286_Gly287insTer)	rs1555459108
NM_001009944.3(PKD1):c.8749del (p.Ala2917fs)	rs2092179583
NM_001009944.3(PKD1):c.8836del (p.Leu2946fs)	rs2092156841
NM_001009944.3(PKD1):c.9074_9076delinsA (p.Trp3025_Arg3026delinsTer)	rs1555450424
NM_001009944.3(PKD1):c.9240_9241del (p.Ala3082fs)	rs1567173924
NM_001009944.3(PKD1):c.9547C>T (p.Arg3183Ter)	rs1485297878
NM_001009944.3(PKD1):c.9585G>A (p.Trp3195Ter)	rs1596514027
NM_001009944.3(PKD1):c.9585_9591del (p.Trp3195fs)	rs2092039663

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