List of variants in gene PKD1 reported as likely benign by Genome Diagnostics Laboratory, University Medical Center Utrecht

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: 40

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HGVS	dbSNP	gnomAD frequency
NM_001009944.3(PKD1):c.12409C>T (p.Leu4137=)	rs79899502	0.05695
NM_001009944.3(PKD1):c.8109C>T (p.Thr2703=)	rs149879790	0.00411
NM_001009944.3(PKD1):c.9957C>T (p.Ser3319=)	rs141101590	0.00388
NM_001009944.3(PKD1):c.11976C>G (p.Ala3992=)	rs112387277	0.00317
NM_001009944.3(PKD1):c.4018C>T (p.Arg1340Trp)	rs143690392	0.00313
NM_001009944.3(PKD1):c.6488G>A (p.Arg2163Gln)	rs145217118	0.00290
NM_001009944.3(PKD1):c.9795C>T (p.Ser3265=)	rs150949575	0.00237
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met)	rs139971481	0.00222
NM_001009944.3(PKD1):c.3316C>G (p.Leu1106Val)	rs141625744	0.00216
NM_001009944.3(PKD1):c.8713G>A (p.Val2905Ile)	rs147788838	0.00178
NM_001009944.3(PKD1):c.6297G>T (p.Gly2099=)	rs137925121	0.00162
NM_001009944.3(PKD1):c.10325C>T (p.Ala3442Val)	rs144593342	0.00150
NM_001009944.3(PKD1):c.7636C>T (p.His2546Tyr)	rs200037070	0.00145
NM_001009944.3(PKD1):c.2235C>G (p.Ala745=)	rs533569454	0.00144
NM_001009944.3(PKD1):c.1281G>A (p.Ala427=)	rs141553109	0.00120
NM_001009944.3(PKD1):c.580G>A (p.Ala194Thr)	rs769369111	0.00105
NM_001009944.3(PKD1):c.2192C>T (p.Pro731Leu)	rs979342927	0.00102
NM_001009944.3(PKD1):c.2109C>T (p.His703=)	rs527655141	0.00097
NM_001009944.3(PKD1):c.6915+14A>G	rs199559513	0.00097
NM_001009944.3(PKD1):c.8247G>A (p.Ala2749=)	rs143265128	0.00080
NM_001009944.3(PKD1):c.4836G>A (p.Thr1612=)	rs138116334	0.00070
NM_001009944.3(PKD1):c.3430G>A (p.Val1144Ile)	rs140991712	0.00061
NM_001009944.3(PKD1):c.8111C>T (p.Ala2704Val)	rs200509641	0.00059
NM_001009944.3(PKD1):c.7429C>T (p.Arg2477Cys)	rs376283361	0.00057
NM_001009944.3(PKD1):c.3495C>T (p.Asp1165=)	rs375384742	0.00036
NM_001009944.3(PKD1):c.5783C>G (p.Pro1928Arg)	rs201991587	0.00035
NM_001009944.3(PKD1):c.5577T>C (p.Ala1859=)	rs140662778	0.00033
NM_001009944.3(PKD1):c.10221-14C>T	rs201207354	0.00029
NM_001009944.3(PKD1):c.10654G>T (p.Ala3552Ser)	rs141670808	0.00026
NM_001009944.3(PKD1):c.6882C>T (p.Leu2294=)	rs758337073	0.00024
NM_001009944.3(PKD1):c.8689G>A (p.Val2897Ile)	rs145532417	0.00022
NM_001009944.3(PKD1):c.10168-8C>T	rs199808929	0.00018
NM_001009944.3(PKD1):c.3525G>A (p.Pro1175=)	rs375443604	0.00011
NM_001009944.3(PKD1):c.7605C>T (p.Tyr2535=)	rs146363575	0.00011
NM_001009944.3(PKD1):c.11589G>A (p.Leu3863=)	rs778410054	0.00009
NM_001009944.3(PKD1):c.3429C>T (p.Pro1143=)	rs377661579	0.00004
NM_001009944.3(PKD1):c.9708C>T (p.Ala3236=)	rs755291122	0.00003
NM_001009944.3(PKD1):c.10602G>A (p.Ala3534=)	rs572474052
NM_001009944.3(PKD1):c.4475G>C (p.Arg1492Pro)	rs757055929
NM_001009944.3(PKD1):c.4524C>T (p.Leu1508=)	rs144200494

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