ClinVar Miner

List of variants in gene WDR62 reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 18
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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.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.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.3812C>T (p.Ala1271Val) rs111294536 0.00310
NM_001083961.2(WDR62):c.4312-5T>G rs182467995 0.00215
NM_001083961.2(WDR62):c.1233+13C>T rs76130844
NM_001083961.2(WDR62):c.1641G>A (p.Thr547=) rs2301734

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