ClinVar Miner

List of variants in gene WDR62 reported as benign for autosomal recessive disease

Included ClinVar conditions (1196):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_001083961.2(WDR62):c.4170A>C (p.Leu1390Phe) rs1008328 0.75234
NM_001083961.2(WDR62):c.2549T>C (p.Leu850Ser) rs2285745 0.68524
NM_001083961.2(WDR62):c.3929A>T (p.Gln1310Leu) rs2074435 0.67813
NM_001083961.2(WDR62):c.2147-34G>A rs2301736 0.41985
NM_001083961.2(WDR62):c.700-18C>T rs10423651 0.28763
NM_001083961.2(WDR62):c.186C>T (p.Leu62=) rs11538454 0.14792
NM_001083961.2(WDR62):c.2271G>A (p.Leu757=) rs61494900 0.14221
NM_001083961.2(WDR62):c.3468C>T (p.Leu1156=) rs17851502 0.14024
NM_001083961.2(WDR62):c.1643-10C>T rs4806263 0.14010
NM_001083961.2(WDR62):c.1470C>T (p.Asp490=) rs45567532 0.13368
NM_001083961.2(WDR62):c.1643-39G>A rs2301735 0.07203
NM_001083961.2(WDR62):c.180G>A (p.Val60=) rs61742664 0.04216
NM_001083961.2(WDR62):c.4123G>A (p.Gly1375Ser) rs17851503 0.03516
NM_001083961.2(WDR62):c.562-13C>T rs78138007 0.03315
NM_001083961.2(WDR62):c.3401T>G (p.Met1134Arg) rs61741470 0.03313
NM_001083961.2(WDR62):c.3639C>T (p.Ser1213=) rs45470992 0.03038
NM_001083961.2(WDR62):c.3674G>A (p.Arg1225His) rs61743589 0.02230
NM_001083961.2(WDR62):c.2312A>G (p.Lys771Arg) rs61747277 0.01994
NM_001083961.2(WDR62):c.2281C>T (p.His761Tyr) rs61744321 0.01766
NM_001083961.2(WDR62):c.2521-13G>C rs79646208 0.01151
NM_001083961.2(WDR62):c.1642+8C>T rs143309981 0.00960
NM_001083961.2(WDR62):c.2975C>T (p.Ser992Leu) rs74518295 0.00953
NM_001083961.2(WDR62):c.2991C>T (p.Ala997=) rs77898819 0.00804
NM_001083961.2(WDR62):c.142C>T (p.Leu48Phe) rs62109744 0.00795
NM_001083961.2(WDR62):c.1959-20A>G rs150830386 0.00582
NM_001083961.2(WDR62):c.866A>G (p.Lys289Arg) rs12327568 0.00494
NM_001083961.2(WDR62):c.2334-6C>A rs138928852 0.00461
NM_001083961.2(WDR62):c.3946C>G (p.Gln1316Glu) rs35811023 0.00416
NM_001083961.2(WDR62):c.1225A>G (p.Asn409Asp) rs146180912 0.00414
NM_001083961.2(WDR62):c.3812C>T (p.Ala1271Val) rs111294536 0.00310
NM_001083961.2(WDR62):c.269+19C>T rs140267028 0.00221
NM_001083961.2(WDR62):c.4312-5T>G rs182467995 0.00215
NM_001083961.2(WDR62):c.4338C>T (p.Thr1446=) rs149289227 0.00183
NM_001083961.2(WDR62):c.3786C>T (p.Gly1262=) rs148415080 0.00176
NM_001083961.2(WDR62):c.2016C>T (p.Asp672=) rs114968951 0.00170
NM_001083961.2(WDR62):c.3033G>A (p.Pro1011=) rs118175551 0.00148
NM_001083961.2(WDR62):c.3231C>T (p.Pro1077=) rs187029707 0.00102
NM_001083961.2(WDR62):c.744C>T (p.Gly248=) rs146898747 0.00045
NM_001083961.2(WDR62):c.699+16T>C rs201300686 0.00001
NM_001083961.2(WDR62):c.1233+11C>A rs116050630
NM_001083961.2(WDR62):c.1233+13C>T rs76130844
NM_001083961.2(WDR62):c.1315T>G (p.Phe439Val) rs75230537
NM_001083961.2(WDR62):c.1641G>A (p.Thr547=) rs2301734
NM_001083961.2(WDR62):c.2112G>C (p.Ser704=) rs115453534
NM_001083961.2(WDR62):c.2334-29C>T rs2301737
NM_001083961.2(WDR62):c.2739+17C>A rs144527765

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