List of variants in gene PKD1 reported as pathogenic by GeneDx

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: 137

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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.8311G>A (p.Glu2771Lys)	rs1057518897	0.00001
NM_001009944.3(PKD1):c.10167+25_10167+43del	rs1197421698
NM_001009944.3(PKD1):c.10420C>T (p.Gln3474Ter)	rs1064794206
NM_001009944.3(PKD1):c.10462dup (p.Gln3488fs)	rs2091883381
NM_001009944.3(PKD1):c.10524dup (p.Glu3509fs)	rs2151710478
NM_001009944.3(PKD1):c.10527_10528del (p.Glu3509fs)	rs1378307448
NM_001009944.3(PKD1):c.10588C>T (p.Gln3530Ter)	rs1596490025
NM_001009944.3(PKD1):c.10658G>A (p.Trp3553Ter)	rs1321748065
NM_001009944.3(PKD1):c.10725G>A (p.Trp3575Ter)	rs1177764199
NM_001009944.3(PKD1):c.10842C>G (p.Tyr3614Ter)
NM_001009944.3(PKD1):c.10964del (p.Phe3655fs)
NM_001009944.3(PKD1):c.11379del (p.Thr3794fs)	rs1567153758
NM_001009944.3(PKD1):c.11384G>A (p.Trp3795Ter)	rs2151699315
NM_001009944.3(PKD1):c.11385G>A (p.Trp3795Ter)
NM_001009944.3(PKD1):c.11512C>T (p.Gln3838Ter)	rs199476096
NM_001009944.3(PKD1):c.11525G>A (p.Trp3842Ter)	rs1596481464
NM_001009944.3(PKD1):c.11621del (p.Pro3874fs)	rs2151695543
NM_001009944.3(PKD1):c.11783G>A (p.Trp3928Ter)	rs764746483
NM_001009944.3(PKD1):c.11816G>A (p.Trp3939Ter)
NM_001009944.3(PKD1):c.11863C>T (p.Gln3955Ter)	rs2091493090
NM_001009944.3(PKD1):c.11884C>T (p.Gln3962Ter)	rs1596476503
NM_001009944.3(PKD1):c.11944C>T (p.Gln3982Ter)	rs1161012209
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.12036G>A (p.Trp4012Ter)	rs1218054241
NM_001009944.3(PKD1):c.12061C>T (p.Arg4021Ter)	rs764431330
NM_001009944.3(PKD1):c.12100del (p.Val4034fs)
NM_001009944.3(PKD1):c.12124C>T (p.Gln4042Ter)	rs199476094
NM_001009944.3(PKD1):c.12278_12279del (p.Leu4093fs)	rs1555444648
NM_001009944.3(PKD1):c.12310_12313dup (p.Ile4105fs)	rs1555444602
NM_001009944.3(PKD1):c.12323G>A (p.Trp4108Ter)
NM_001009944.3(PKD1):c.12608_12635del (p.Arg4203fs)
NM_001009944.3(PKD1):c.12682C>T (p.Arg4228Ter)	rs199476095
NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter)	rs1045675831
NM_001009944.3(PKD1):c.1297C>T (p.Gln433Ter)
NM_001009944.3(PKD1):c.1386-2A>G
NM_001009944.3(PKD1):c.1426del (p.Val476fs)
NM_001009944.3(PKD1):c.155C>A (p.Ser52Ter)
NM_001009944.3(PKD1):c.1687C>T (p.Gln563Ter)	rs1064794207
NM_001009944.3(PKD1):c.1722+2T>C	rs886041836
NM_001009944.3(PKD1):c.1987C>T (p.Gln663Ter)
NM_001009944.3(PKD1):c.2038del (p.Tyr680fs)	rs1448641464
NM_001009944.3(PKD1):c.2050A>T (p.Arg684Ter)
NM_001009944.3(PKD1):c.2079del (p.Ala696fs)
NM_001009944.3(PKD1):c.2079dup (p.Pro694fs)	rs1057518923
NM_001009944.3(PKD1):c.2085dup (p.Ala696fs)	rs1567212531
NM_001009944.3(PKD1):c.2113C>T (p.Gln705Ter)	rs2092604224
NM_001009944.3(PKD1):c.215+1G>C	rs1555462433
NM_001009944.3(PKD1):c.2152C>T (p.Gln718Ter)	rs1555458032
NM_001009944.3(PKD1):c.2439C>A (p.Cys813Ter)	rs746720158
NM_001009944.3(PKD1):c.2494del (p.Arg832fs)
NM_001009944.3(PKD1):c.2494dup (p.Arg832fs)	rs1567210630
NM_001009944.3(PKD1):c.2622C>A (p.Cys874Ter)
NM_001009944.3(PKD1):c.2677_2678del (p.Leu893fs)	rs1567210080
NM_001009944.3(PKD1):c.2684C>A (p.Ser895Ter)
NM_001009944.3(PKD1):c.2781_2782insAG (p.Ala928fs)	rs1596574987
NM_001009944.3(PKD1):c.3171_3172del (p.Phe1057fs)	rs2151804597
NM_001009944.3(PKD1):c.3295+1G>C
NM_001009944.3(PKD1):c.3425_3428dup (p.Val1144fs)
NM_001009944.3(PKD1):c.348_352del (p.Asn116fs)	rs2092683596
NM_001009944.3(PKD1):c.3520C>T (p.Gln1174Ter)	rs1057518899
NM_001009944.3(PKD1):c.4109_4120delinsG (p.Tyr1370fs)
NM_001009944.3(PKD1):c.412C>T (p.Arg138Ter)	rs1596591955
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter)	rs1567200516
NM_001009944.3(PKD1):c.445C>T (p.Gln149Ter)
NM_001009944.3(PKD1):c.4551C>A (p.Tyr1517Ter)	rs1238351274
NM_001009944.3(PKD1):c.4551C>G (p.Tyr1517Ter)	rs1238351274
NM_001009944.3(PKD1):c.4797C>A (p.Tyr1599Ter)	rs202110519
NM_001009944.3(PKD1):c.5006G>A (p.Trp1669Ter)
NM_001009944.3(PKD1):c.5159G>A (p.Trp1720Ter)	rs2151794620
NM_001009944.3(PKD1):c.5637C>G (p.Tyr1879Ter)
NM_001009944.3(PKD1):c.5707C>T (p.Gln1903Ter)	rs942694907
NM_001009944.3(PKD1):c.5756del (p.Phe1919fs)
NM_001009944.3(PKD1):c.5803del (p.Arg1935fs)	rs2092443264
NM_001009944.3(PKD1):c.5824dup (p.Arg1942fs)
NM_001009944.3(PKD1):c.5912dup (p.Ser1972fs)	rs2151790839
NM_001009944.3(PKD1):c.5923C>T (p.Gln1975Ter)	rs2092439541
NM_001009944.3(PKD1):c.5989C>T (p.Gln1997Ter)
NM_001009944.3(PKD1):c.6031C>T (p.Gln2011Ter)	rs1555454739
NM_001009944.3(PKD1):c.6040C>T (p.Gln2014Ter)	rs2151790199
NM_001009944.3(PKD1):c.6184C>T (p.Gln2062Ter)	rs750843149
NM_001009944.3(PKD1):c.6199C>T (p.Gln2067Ter)	rs1555454604
NM_001009944.3(PKD1):c.6398dup (p.Val2134fs)	rs1555454467
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.6487C>T (p.Arg2163Ter)	rs1555454411
NM_001009944.3(PKD1):c.6491C>G (p.Ser2164Ter)
NM_001009944.3(PKD1):c.6549dup (p.Glu2184Ter)	rs1555454373
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.6586C>T (p.Gln2196Ter)	rs1567192286
NM_001009944.3(PKD1):c.6715_6716del (p.Thr2239fs)	rs2151786492
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.6759del (p.Glu2254fs)
NM_001009944.3(PKD1):c.6913C>T (p.Gln2305Ter)	rs1064793762
NM_001009944.3(PKD1):c.6994_7000del (p.Ala2332fs)	rs1555453872
NM_001009944.3(PKD1):c.7126C>T (p.Gln2376Ter)	rs1555453395
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.7489+1G>A
NM_001009944.3(PKD1):c.7555C>T (p.Gln2519Ter)	rs2151772321
NM_001009944.3(PKD1):c.7666C>T (p.Gln2556Ter)	rs1567184366
NM_001009944.3(PKD1):c.7816C>T (p.Gln2606Ter)	rs2092321142
NM_001009944.3(PKD1):c.7915C>T (p.Arg2639Ter)	rs750913623
NM_001009944.3(PKD1):c.7921C>T (p.Gln2641Ter)	rs764840802
NM_001009944.3(PKD1):c.7948_7949del (p.Leu2650fs)
NM_001009944.3(PKD1):c.7987C>T (p.Gln2663Ter)	rs1567182193
NM_001009944.3(PKD1):c.8017-2A>G	rs1567180640
NM_001009944.3(PKD1):c.8095C>T (p.Gln2699Ter)	rs1222094213
NM_001009944.3(PKD1):c.8320_8321del (p.Leu2774fs)
NM_001009944.3(PKD1):c.8350C>T (p.Gln2784Ter)
NM_001009944.3(PKD1):c.8369del (p.Pro2790fs)	rs1057518604
NM_001009944.3(PKD1):c.8566C>T (p.Gln2856Ter)
NM_001009944.3(PKD1):c.856_862del (p.Ser286_Gly287insTer)	rs1555459108
NM_001009944.3(PKD1):c.862C>T (p.Gln288Ter)
NM_001009944.3(PKD1):c.8767C>T (p.Gln2923Ter)	rs747638599
NM_001009944.3(PKD1):c.8823C>G (p.Tyr2941Ter)	rs780322906
NM_001009944.3(PKD1):c.8898_8911dup (p.Ala2971fs)	rs1555450672
NM_001009944.3(PKD1):c.8905C>T (p.Gln2969Ter)	rs200520583
NM_001009944.3(PKD1):c.8972dup (p.Tyr2991Ter)	rs1567174997
NM_001009944.3(PKD1):c.8998del (p.Arg3000fs)
NM_001009944.3(PKD1):c.9005C>A (p.Ser3002Ter)
NM_001009944.3(PKD1):c.9083_9084del (p.Glu3028fs)
NM_001009944.3(PKD1):c.9240_9241del (p.Ala3082fs)	rs1567173924
NM_001009944.3(PKD1):c.9296del (p.Asp3099fs)
NM_001009944.3(PKD1):c.9320_9324dup (p.Ile3109fs)
NM_001009944.3(PKD1):c.9347del (p.Gly3116fs)
NM_001009944.3(PKD1):c.9547C>T (p.Arg3183Ter)	rs1485297878
NM_001009944.3(PKD1):c.954_976del (p.Pro319fs)	rs2151823424
NM_001009944.3(PKD1):c.9616C>T (p.Gln3206Ter)
NM_001009944.3(PKD1):c.9760C>T (p.Gln3254Ter)

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