List of variants in gene PKD1 reported as pathogenic by Athena Diagnostics Inc

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: 106

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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.4387C>T (p.Gln1463Ter)	rs1183899324	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_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)	rs1057518897	0.00001
NM_001009944.3(PKD1):c.9412G>A (p.Val3138Met)	rs1358566538	0.00001
NM_001009944.3(PKD1):c.10026dup (p.Leu3343fs)	rs1567169118
NM_001009944.3(PKD1):c.10084C>T (p.Gln3362Ter)	rs1567166045
NM_001009944.3(PKD1):c.10167+25_10167+43del	rs1197421698
NM_001009944.3(PKD1):c.10233del (p.Trp3411fs)	rs1596501760
NM_001009944.3(PKD1):c.10417_10419delinsT (p.Ile3473fs)	rs1567164013
NM_001009944.3(PKD1):c.10618+2T>G	rs1555447153
NM_001009944.3(PKD1):c.10745dup (p.Val3584fs)	rs1555447011
NM_001009944.3(PKD1):c.109del (p.Cys37fs)	rs2151858299
NM_001009944.3(PKD1):c.11017-10C>A	rs555703777
NM_001009944.3(PKD1):c.11058_11077del (p.Ala3687fs)	rs1555446611
NM_001009944.3(PKD1):c.1105_1106del (p.Gln368_Ser369insTer)
NM_001009944.3(PKD1):c.11161dup (p.Glu3721fs)	rs2151702333
NM_001009944.3(PKD1):c.11176T>C (p.Trp3726Arg)	rs1555446411
NM_001009944.3(PKD1):c.11274_11275del (p.Tyr3759fs)	rs1555446105
NM_001009944.3(PKD1):c.11343C>G (p.Tyr3781Ter)	rs2091619053
NM_001009944.3(PKD1):c.11344del (p.Asp3782fs)	rs2091618928
NM_001009944.3(PKD1):c.11412-2A>C	rs1555445771
NM_001009944.3(PKD1):c.11453dup (p.Tyr3819fs)	rs1567153194
NM_001009944.3(PKD1):c.11471del (p.Gly3824fs)
NM_001009944.3(PKD1):c.11633_11660dup (p.Phe3888fs)	rs2151695288
NM_001009944.3(PKD1):c.11713-1G>A	rs867092741
NM_001009944.3(PKD1):c.11713-2A>G	rs1555445274
NM_001009944.3(PKD1):c.11930dup (p.Asp3978fs)	rs2151686766
NM_001009944.3(PKD1):c.11944C>T (p.Gln3982Ter)	rs1161012209
NM_001009944.3(PKD1):c.12031C>T (p.Gln4011Ter)	rs1555444985
NM_001009944.3(PKD1):c.12124C>T (p.Gln4042Ter)	rs199476094
NM_001009944.3(PKD1):c.12448C>T (p.Arg4150Cys)	rs1282668884
NM_001009944.3(PKD1):c.12682C>T (p.Arg4228Ter)	rs199476095
NM_001009944.3(PKD1):c.12711C>G (p.Tyr4237Ter)	rs906771712
NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter)	rs1045675831
NM_001009944.3(PKD1):c.1307_1308del (p.Cys436fs)	rs1555458891
NM_001009944.3(PKD1):c.1538_1539delinsG (p.Pro513fs)
NM_001009944.3(PKD1):c.165_171del (p.Leu56fs)	rs1555462438
NM_001009944.3(PKD1):c.1723-1G>A	rs1596582948
NM_001009944.3(PKD1):c.2085dup (p.Ala696fs)	rs1567212531
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)	rs1616940
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser)	rs199476100
NM_001009944.3(PKD1):c.2677_2678del (p.Leu893fs)	rs1567210080
NM_001009944.3(PKD1):c.2867dup (p.Val957fs)	rs1567208136
NM_001009944.3(PKD1):c.3247_3253del (p.Ala1083fs)	rs1567205637
NM_001009944.3(PKD1):c.3296-1G>C	rs1567204631
NM_001009944.3(PKD1):c.3296-4_3304del
NM_001009944.3(PKD1):c.3349C>T (p.Gln1117Ter)	rs755084885
NM_001009944.3(PKD1):c.3601_3620del (p.Ala1201fs)	rs778028967
NM_001009944.3(PKD1):c.3G>A (p.Met1Ile)	rs1567233098
NM_001009944.3(PKD1):c.4070del (p.Leu1357fs)	rs1596560540
NM_001009944.3(PKD1):c.4242G>A (p.Trp1414Ter)
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.4797C>A (p.Tyr1599Ter)	rs202110519
NM_001009944.3(PKD1):c.5018del (p.Gly1673fs)	rs1596556800
NM_001009944.3(PKD1):c.5395C>T (p.Gln1799Ter)	rs2092452489
NM_001009944.3(PKD1):c.5413del (p.Leu1805fs)	rs2092452089
NM_001009944.3(PKD1):c.5481dup (p.Gln1828fs)	rs1596555170
NM_001009944.3(PKD1):c.5678G>A (p.Trp1893Ter)	rs2092446562
NM_001009944.3(PKD1):c.6193del (p.Ala2065fs)	rs1555454620
NM_001009944.3(PKD1):c.6307C>T (p.Gln2103Ter)	rs1555454512
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter)	rs1555454411
NM_001009944.3(PKD1):c.6587_6593dup (p.Gly2199fs)	rs1567192229
NM_001009944.3(PKD1):c.6727C>T (p.Gln2243Ter)	rs1567191609
NM_001009944.3(PKD1):c.6727_6728del (p.Gln2243fs)	rs1567191601
NM_001009944.3(PKD1):c.6759_6760delinsT (p.Glu2254fs)
NM_001009944.3(PKD1):c.6806C>G (p.Ser2269Ter)	rs1567191179
NM_001009944.3(PKD1):c.6994_7000del (p.Ala2332fs)	rs1555453872
NM_001009944.3(PKD1):c.7045del (p.Glu2349fs)	rs1596548114
NM_001009944.3(PKD1):c.7060C>T (p.Gln2354Ter)	rs2092400157
NM_001009944.3(PKD1):c.7113_7114del (p.Ser2372fs)	rs1567187389
NM_001009944.3(PKD1):c.7126C>T (p.Gln2376Ter)	rs1555453395
NM_001009944.3(PKD1):c.7164C>G (p.Tyr2388Ter)	rs1555453372
NM_001009944.3(PKD1):c.7204C>T (p.Arg2402Ter)	rs1567186946
NM_001009944.3(PKD1):c.7704-2_7712del	rs1555452738
NM_001009944.3(PKD1):c.7784_7785dup (p.Leu2596fs)	rs1567183633
NM_001009944.3(PKD1):c.7833C>G (p.Tyr2611Ter)	rs138871063
NM_001009944.3(PKD1):c.8017-1G>C	rs2092263886
NM_001009944.3(PKD1):c.8017-1dup	rs1555452047
NM_001009944.3(PKD1):c.8017-2A>G	rs1567180640
NM_001009944.3(PKD1):c.8045C>A (p.Ser2682Ter)	rs151308544
NM_001009944.3(PKD1):c.8162-1G>A	rs1555451430
NM_001009944.3(PKD1):c.8218G>T (p.Gly2740Ter)	rs1555451368
NM_001009944.3(PKD1):c.8309_8318delinsTGACGCTGACGGGCGGG (p.Asn2770fs)	rs2092202856
NM_001009944.3(PKD1):c.8333del (p.Gly2778fs)	rs1567178000
NM_001009944.3(PKD1):c.856_862del (p.Ser286_Gly287insTer)	rs1555459108
NM_001009944.3(PKD1):c.8698C>T (p.Gln2900Ter)	rs1567176750
NM_001009944.3(PKD1):c.8704C>T (p.Gln2902Ter)	rs1555450968
NM_001009944.3(PKD1):c.8754_8758del (p.Gly2919fs)	rs1596525695
NM_001009944.3(PKD1):c.8873C>A (p.Ser2958Ter)	rs750780241
NM_001009944.3(PKD1):c.8972dup (p.Tyr2991Ter)	rs1567174997
NM_001009944.3(PKD1):c.9013C>T (p.Gln3005Ter)
NM_001009944.3(PKD1):c.9202-10_9218del	rs1596521250
NM_001009944.3(PKD1):c.9240_9241del (p.Ala3082fs)	rs1567173924
NM_001009944.3(PKD1):c.924_948delinsTGGAT (p.Asp309fs)	rs1555459056
NM_001009944.3(PKD1):c.9347_9350dup (p.Phe3118fs)	rs2151748289
NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met)	rs1555449635
NM_001009944.3(PKD1):c.9412dup (p.Val3138fs)	rs1567171493
NM_001009944.3(PKD1):c.9568+1G>T	rs2092046394
NM_001009944.3(PKD1):c.9729dup (p.Arg3244fs)	rs2092027387
NM_001009944.3(PKD1):c.974A>G (p.Tyr325Cys)	rs1232180956
NM_001009944.3(PKD1):c.9800G>A (p.Trp3267Ter)	rs1460604173
NM_001009944.3(PKD1):c.9856CTC[1] (p.Leu3287del)	rs2092020811
NM_001009944.3(PKD1):c.9885del (p.Asn3295fs)	rs1596512492

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