ClinVar Miner

List of variants in gene PKD2 reported as benign

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Gene type:
ClinVar version:
Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_000297.4(PKD2):c.595+207T>C rs2725235 0.78129
NM_000297.4(PKD2):c.844-22G>A rs2725221 0.66782
NM_000297.4(PKD2):c.1716+117A>G rs2725210 0.33871
NM_000297.4(PKD2):c.1716+310T>C rs2728103 0.32205
NM_000297.4(PKD2):c.2523-169T>C rs2725203 0.31587
NM_000297.4(PKD2):c.2019+274C>A rs2725207 0.30999
NM_000297.4(PKD2):c.*1237G>A rs10965 0.25694
NM_000297.4(PKD2):c.2358+245A>T rs11938025 0.25379
NM_000297.4(PKD2):c.1548+321A>G rs10031265 0.21880
NM_000297.4(PKD2):c.*256C>T rs2728121 0.13098
NM_000297.4(PKD2):c.1094+92A>G rs17013735 0.10175
NM_000297.4(PKD2):c.1094+308T>C rs2725219 0.08801
NM_000297.4(PKD2):c.1549-137T>C rs2728104 0.08736
NM_000297.4(PKD2):c.*1030G>A rs2725202 0.08186
NM_000297.4(PKD2):c.843+218C>A rs2728109 0.07940
NM_000297.4(PKD2):c.1094+324T>A rs7674673 0.05311
NM_000297.4(PKD2):c.596-87T>A rs72873461 0.03287
NM_000297.4(PKD2):c.1549-47C>T rs75331451 0.01955
NM_000297.4(PKD2):c.596-16C>T rs62310565 0.01932
NM_000297.4(PKD2):c.710-29G>A rs72873478 0.01046
NM_000297.4(PKD2):c.2358+23G>A rs10516804 0.01042
NM_000297.4(PKD2):c.1359A>G (p.Pro453=) rs17013754 0.00985
NM_000297.4(PKD2):c.*1120C>T rs116540621 0.00805
NM_000297.4(PKD2):c.2134T>C (p.Leu712=) rs73841280 0.00563
NM_000297.4(PKD2):c.2119-35T>C rs78885971 0.00524
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu) rs2234917 0.00481
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln) rs147654263 0.00312
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn) rs145343957 0.00280
NM_000297.4(PKD2):c.*1113G>A rs541524392 0.00232
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys) rs75762896 0.00176
NM_000297.4(PKD2):c.*552G>A rs139787413 0.00123
NM_000297.4(PKD2):c.1830G>A (p.Ala610=) rs144968710 0.00091
NM_000297.4(PKD2):c.784G>A (p.Val262Met) rs138132026 0.00078
NM_000297.4(PKD2):c.1354A>G (p.Ile452Val) rs1801612 0.00065
NM_000297.4(PKD2):c.1617G>C (p.Leu539=) rs145297759 0.00044
NM_000297.4(PKD2):c.2829C>T (p.Ser943=) rs138495345 0.00036
NM_000297.4(PKD2):c.1546G>T (p.Val516Leu) rs143581690 0.00028
NM_000297.4(PKD2):c.595+15C>T rs559555727 0.00026
NM_000297.4(PKD2):c.2286C>T (p.Tyr762=) rs555242193 0.00017
NM_000297.4(PKD2):c.2523-7C>T rs199528409 0.00011
NM_000297.4(PKD2):c.2814A>G (p.Gln938=) rs573469832 0.00008
NM_000297.4(PKD2):c.1548+9G>C rs376901684 0.00001
NM_000297.4(PKD2):c.2139C>T (p.Val713=) rs200707583 0.00001
NM_000297.4(PKD2):c.2295T>C (p.Asp765=) rs138982773 0.00001
NM_000297.4(PKD2):c.2460C>T (p.Ser820=) rs572822238 0.00001
GRCh37/hg19 4q22.1(chr4:88927707-88929365)x1
GRCh37/hg19 4q22.1(chr4:88927707-88929365)x3
GRCh37/hg19 4q22.1(chr4:88928399-88929179)x1
GRCh37/hg19 4q22.1(chr4:88928399-88929365)x1
GRCh37/hg19 4q22.1(chr4:88928399-88930841)x3
GRCh37/hg19 4q22.1(chr4:88928738-88930841)x4
GRCh37/hg19 4q22.1(chr4:88928738-88932272)x0
GRCh37/hg19 4q22.1(chr4:88928738-88932272)x3
GRCh37/hg19 4q22.1(chr4:88928738-88933584)x1
GRCh37/hg19 4q22.1(chr4:88928777-88929230)x3
GRCh37/hg19 4q22.1(chr4:88928816-88929179)x1
GRCh37/hg19 4q22.1(chr4:88928816-88929365)x1
GRCh37/hg19 4q22.1(chr4:88928816-88930841)x1
GRCh37/hg19 4q22.1(chr4:88928877-88929179)x1
GRCh37/hg19 4q22.1(chr4:88928877-88929365)x1
NM_000297.4(PKD2):c.1094+269G>C rs2725220
NM_000297.4(PKD2):c.1094+315G>C rs2725218
NM_000297.4(PKD2):c.1477T>C (p.Leu493=)
NM_000297.4(PKD2):c.1548+314dup rs35144940
NM_000297.4(PKD2):c.1587A>T (p.Thr529=) rs375543446
NM_000297.4(PKD2):c.1716+137del rs70957296
NM_000297.4(PKD2):c.1716+17A>G rs142580445
NM_000297.4(PKD2):c.2020-158del rs60055635
NM_000297.4(PKD2):c.2118+10del
NM_000297.4(PKD2):c.2118+10dup rs756472871
NM_000297.4(PKD2):c.2164G>T (p.Val722Leu) rs529945469
NM_000297.4(PKD2):c.2240+113del rs111465406
NM_000297.4(PKD2):c.2240+113dup rs111465406
NM_000297.4(PKD2):c.2340C>T (p.Asp780=)
NM_000297.4(PKD2):c.2571G>A (p.Val857=)
NM_000297.4(PKD2):c.2671-3dup
NM_000297.4(PKD2):c.596-116del rs200521275
NM_000297.4(PKD2):c.699C>T (p.Val233=)
NM_000297.4(PKD2):c.710-4539T>C
NM_000297.4(PKD2):c.843+57T>C rs17786456

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