List of variants in gene PKD1 reported as uncertain significance by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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: 101

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HGVS	dbSNP	gnomAD frequency
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys)	rs144979397	0.00495
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe)	rs139945204	0.00125
NM_001009944.3(PKD1):c.10043G>A (p.Arg3348Gln)	rs146494724	0.00044
NM_001009944.3(PKD1):c.11675G>A (p.Arg3892His)	rs748887038	0.00036
NM_001009944.3(PKD1):c.5648C>T (p.Ala1883Val)	rs779745348	0.00026
NM_001009944.3(PKD1):c.10939C>T (p.Arg3647Trp)	rs181927900	0.00024
NM_001009944.3(PKD1):c.776G>A (p.Cys259Tyr)	rs529066905	0.00024
NM_001009944.3(PKD1):c.8593C>T (p.Arg2865Trp)	rs370251642	0.00024
NM_001009944.3(PKD1):c.8281C>T (p.Arg2761Cys)	rs138256927	0.00021
NM_001009944.3(PKD1):c.11672G>A (p.Arg3891His)	rs950293866	0.00020
NM_001009944.3(PKD1):c.8009A>G (p.Gln2670Arg)	rs749291211	0.00017
NM_001009944.3(PKD1):c.2009C>T (p.Thr670Met)	rs377136828	0.00014
NM_001009944.3(PKD1):c.10601C>T (p.Ala3534Val)	rs550305727	0.00013
NM_001009944.3(PKD1):c.4008C>A (p.Asn1336Lys)	rs770514810	0.00013
NM_001009944.3(PKD1):c.4252A>T (p.Thr1418Ser)	rs780408550	0.00013
NM_001009944.3(PKD1):c.9067A>G (p.Met3023Val)	rs17135779	0.00013
NM_001009944.3(PKD1):c.11957C>T (p.Ala3986Val)	rs528213425	0.00012
NM_001009944.3(PKD1):c.2221C>T (p.Pro741Ser)	rs753325067	0.00011
NM_001009944.3(PKD1):c.3685G>A (p.Val1229Met)	rs142712914	0.00011
NM_001009944.3(PKD1):c.4835C>T (p.Thr1612Met)	rs767665300	0.00011
NM_001009944.3(PKD1):c.6185A>T (p.Gln2062Leu)	rs201062488	0.00011
NM_001009944.3(PKD1):c.9898G>A (p.Gly3300Arg)	rs777024498	0.00011
NM_001009944.3(PKD1):c.10099A>G (p.Ile3367Val)	rs773989174	0.00009
NM_001009944.3(PKD1):c.4891C>T (p.Leu1631Phe)	rs543561238	0.00008
NM_001009944.3(PKD1):c.8305C>T (p.Leu2769Phe)	rs771382752	0.00006
NM_001009944.3(PKD1):c.8780C>T (p.Thr2927Met)	rs544100161	0.00006
NM_001009944.3(PKD1):c.9620C>T (p.Thr3207Met)	rs200214266	0.00006
NM_001009944.3(PKD1):c.4946C>T (p.Thr1649Met)	rs761106434	0.00005
NM_001009944.3(PKD1):c.4028C>T (p.Pro1343Leu)	rs138096771	0.00004
NM_001009944.3(PKD1):c.11347G>A (p.Val3783Ile)	rs200120839	0.00003
NM_001009944.3(PKD1):c.2728G>A (p.Asp910Asn)	rs773329559	0.00003
NM_001009944.3(PKD1):c.3605C>T (p.Ala1202Val)	rs767834829	0.00003
NM_001009944.3(PKD1):c.7741G>A (p.Ala2581Thr)	rs773620699	0.00003
NM_001009944.3(PKD1):c.3638G>A (p.Arg1213His)	rs756174712	0.00002
NM_001009944.3(PKD1):c.503G>C (p.Gly168Ala)	rs892397726	0.00002
NM_001009944.3(PKD1):c.6361C>T (p.Arg2121Cys)	rs544427622	0.00002
NM_001009944.3(PKD1):c.12161C>T (p.Ser4054Phe)	rs767346332	0.00001
NM_001009944.3(PKD1):c.4189G>A (p.Glu1397Lys)	rs755462601	0.00001
NM_001009944.3(PKD1):c.4664C>T (p.Ala1555Val)	rs758865304	0.00001
NM_001009944.3(PKD1):c.6865G>A (p.Gly2289Ser)	rs371216568	0.00001
NM_001009944.3(PKD1):c.11243G>C (p.Arg3748Pro)	rs546924823
NM_001009944.3(PKD1):c.11353T>C (p.Trp3785Arg)
NM_001009944.3(PKD1):c.11510T>G (p.Leu3837Arg)	rs2544619907
NM_001009944.3(PKD1):c.11564C>G (p.Thr3855Arg)
NM_001009944.3(PKD1):c.1211C>G (p.Pro404Arg)	rs767579073
NM_001009944.3(PKD1):c.12316C>G (p.Leu4106Val)	rs765313088
NM_001009944.3(PKD1):c.1253A>C (p.His418Pro)
NM_001009944.3(PKD1):c.12558C>G (p.His4186Gln)
NM_001009944.3(PKD1):c.1312G>A (p.Ala438Thr)
NM_001009944.3(PKD1):c.1543G>A (p.Gly515Arg)	rs1555458704
NM_001009944.3(PKD1):c.163G>C (p.Gly55Arg)
NM_001009944.3(PKD1):c.1675C>G (p.Pro559Ala)
NM_001009944.3(PKD1):c.1768A>C (p.Thr590Pro)
NM_001009944.3(PKD1):c.1964C>T (p.Pro655Leu)
NM_001009944.3(PKD1):c.2143G>T (p.Val715Phe)	rs1264766449
NM_001009944.3(PKD1):c.2233G>A (p.Ala745Thr)	rs995499499
NM_001009944.3(PKD1):c.2854-11del
NM_001009944.3(PKD1):c.2985+6_2985+52del
NM_001009944.3(PKD1):c.29_46del (p.Ala10_Leu15del)	rs2544960670
NM_001009944.3(PKD1):c.302A>G (p.Asn101Ser)
NM_001009944.3(PKD1):c.303C>A (p.Asn101Lys)	rs2092684130
NM_001009944.3(PKD1):c.303C>G (p.Asn101Lys)	rs2092684130
NM_001009944.3(PKD1):c.3077C>T (p.Thr1026Ile)
NM_001009944.3(PKD1):c.3479C>T (p.Thr1160Met)
NM_001009944.3(PKD1):c.3483G>T (p.Trp1161Cys)	rs1483748105
NM_001009944.3(PKD1):c.3554G>T (p.Gly1185Val)
NM_001009944.3(PKD1):c.359+2dup
NM_001009944.3(PKD1):c.359T>C (p.Ile120Thr)	rs1555459345
NM_001009944.3(PKD1):c.3727T>G (p.Trp1243Gly)	rs2151800134
NM_001009944.3(PKD1):c.3785A>G (p.His1262Arg)	rs1057518976
NM_001009944.3(PKD1):c.4081C>G (p.Leu1361Val)
NM_001009944.3(PKD1):c.4115_4117del (p.Thr1372del)
NM_001009944.3(PKD1):c.4550A>G (p.Tyr1517Cys)
NM_001009944.3(PKD1):c.4729G>A (p.Asp1577Asn)	rs770989260
NM_001009944.3(PKD1):c.4766C>T (p.Thr1589Met)
NM_001009944.3(PKD1):c.4979C>G (p.Thr1660Ser)	rs1163036590
NM_001009944.3(PKD1):c.5014A>G (p.Arg1672Gly)
NM_001009944.3(PKD1):c.5021C>T (p.Pro1674Leu)
NM_001009944.3(PKD1):c.5036G>A (p.Ser1679Asn)	rs756419129
NM_001009944.3(PKD1):c.509C>G (p.Pro170Arg)
NM_001009944.3(PKD1):c.5150C>T (p.Pro1717Leu)
NM_001009944.3(PKD1):c.5305C>T (p.His1769Tyr)
NM_001009944.3(PKD1):c.5323G>A (p.Gly1775Ser)
NM_001009944.3(PKD1):c.5833G>C (p.Asp1945His)
NM_001009944.3(PKD1):c.5848G>A (p.Val1950Met)	rs771669643
NM_001009944.3(PKD1):c.6016T>C (p.Trp2006Arg)
NM_001009944.3(PKD1):c.6017G>C (p.Trp2006Ser)	rs2544806706
NM_001009944.3(PKD1):c.6068G>T (p.Gly2023Val)
NM_001009944.3(PKD1):c.641G>C (p.Cys214Ser)	rs1596590574
NM_001009944.3(PKD1):c.6499A>G (p.Asn2167Asp)	rs2151787670
NM_001009944.3(PKD1):c.717T>A (p.Ser239Arg)
NM_001009944.3(PKD1):c.728C>G (p.Ala243Gly)
NM_001009944.3(PKD1):c.7544G>A (p.Arg2515Gln)
NM_001009944.3(PKD1):c.8016+3_8016+7del
NM_001009944.3(PKD1):c.8086C>T (p.Leu2696Phe)	rs143923681
NM_001009944.3(PKD1):c.8138G>A (p.Gly2713Glu)	rs1395231369
NM_001009944.3(PKD1):c.8162-13C>G	rs766749006
NM_001009944.3(PKD1):c.9157G>A (p.Ala3053Thr)	rs200360336
NM_001009944.3(PKD1):c.9388C>T (p.Arg3130Trp)
NM_001009944.3(PKD1):c.9452A>C (p.His3151Pro)
NM_001009944.3(PKD1):c.9889G>A (p.Val3297Met)	rs775497330

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