ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.1123C>A (p.Leu375Ile) rs546468897 0.00132
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe) rs139945204 0.00125
NM_001009944.3(PKD1):c.4055G>A (p.Ser1352Asn) rs141274774 0.00073
NM_001009944.3(PKD1):c.4836G>A (p.Thr1612=) rs138116334 0.00070
NM_001009944.3(PKD1):c.3430G>A (p.Val1144Ile) rs140991712 0.00065
NM_001009944.3(PKD1):c.11688C>T (p.Gly3896=) rs547262346 0.00054
NM_001009944.3(PKD1):c.11015G>A (p.Arg3672Gln) rs201220835 0.00039
NM_001009944.3(PKD1):c.5648C>T (p.Ala1883Val) rs779745348 0.00026
NM_001009944.3(PKD1):c.7278T>C (p.Ser2426=) rs2575311 0.00017
NM_001009944.3(PKD1):c.8046G>A (p.Ser2682=) rs142391112 0.00017
NM_001009944.3(PKD1):c.8751G>A (p.Ala2917=) rs746333408 0.00017
NM_001009944.3(PKD1):c.3642A>G (p.Gly1214=) rs767721989 0.00016
NM_001009944.3(PKD1):c.10161C>T (p.His3387=) rs143350197 0.00015
NM_001009944.3(PKD1):c.726T>C (p.Phe242=) rs750727364 0.00013
NM_001009944.3(PKD1):c.11957C>T (p.Ala3986Val) rs528213425 0.00012
NM_001009944.3(PKD1):c.1557C>T (p.Thr519=) rs561467860 0.00011
NM_001009944.3(PKD1):c.5661C>T (p.Ile1887=) rs372696163 0.00011
NM_001009944.3(PKD1):c.7605C>T (p.Tyr2535=) rs146363575 0.00011
NM_001009944.3(PKD1):c.8136C>T (p.Ile2712=) rs754894798 0.00011
NM_001009944.3(PKD1):c.11589G>A (p.Leu3863=) rs778410054 0.00009
NM_001009944.3(PKD1):c.4512C>T (p.Asp1504=) rs774929658 0.00008
NM_001009944.3(PKD1):c.1890G>A (p.Pro630=) rs1344519371 0.00007
NM_001009944.3(PKD1):c.8195G>A (p.Arg2732Gln) rs78185588 0.00007
NM_001009944.3(PKD1):c.2643C>T (p.Phe881=) rs765764257 0.00006
NM_001009944.3(PKD1):c.1723-45G>T rs773310661 0.00004
NM_001009944.3(PKD1):c.216-8C>T rs1157566139 0.00004
NM_001009944.3(PKD1):c.9228C>T (p.Ile3076=) rs532264532 0.00004
NM_001009944.3(PKD1):c.8161+3G>A rs753886023 0.00003
NM_001009944.3(PKD1):c.8814T>C (p.Pro2938=) rs3204450 0.00003
NM_001009944.3(PKD1):c.10890G>A (p.Leu3630=) rs776822071 0.00002
NM_001009944.3(PKD1):c.3344C>T (p.Thr1115Met) rs552292318 0.00002
NM_001009944.3(PKD1):c.10773C>T (p.Ser3591=) rs1168845943 0.00001
NM_001009944.3(PKD1):c.3148G>A (p.Glu1050Lys) rs572950870 0.00001
NM_001009944.3(PKD1):c.3390T>G (p.Ala1130=) rs769998736 0.00001
NM_001009944.3(PKD1):c.4339G>A (p.Ala1447Thr) rs535676910 0.00001
NM_001009944.3(PKD1):c.4662T>C (p.Asn1554=) rs778135756 0.00001
NM_001009944.3(PKD1):c.4815C>T (p.Gly1605=) rs149561527 0.00001
NM_001009944.3(PKD1):c.6096C>T (p.Ala2032=) rs776890572 0.00001
NM_001009944.3(PKD1):c.6306G>A (p.Gly2102=) rs368223012 0.00001
NM_001009944.3(PKD1):c.6573C>T (p.Arg2191=) rs949370419 0.00001
NM_001009944.3(PKD1):c.7810G>A (p.Asp2604Asn) rs778565182 0.00001
NM_001009944.3(PKD1):c.10578G>T (p.Leu3526=) rs745763060
NM_001009944.3(PKD1):c.10602G>A (p.Ala3534=) rs572474052
NM_001009944.3(PKD1):c.11199C>T (p.Pro3733=) rs1596484465
NM_001009944.3(PKD1):c.11643C>T (p.Ala3881=) rs1555445526
NM_001009944.3(PKD1):c.11955C>G (p.Ser3985=) rs369544915
NM_001009944.3(PKD1):c.12162C>T (p.Ser4054=) rs143802974
NM_001009944.3(PKD1):c.12835C>A (p.Arg4279=) rs375443308
NM_001009944.3(PKD1):c.2010G>C (p.Thr670=) rs752795943

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