ClinVar Miner

List of variants in gene WDR62 reported as likely pathogenic for not provided

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001083961.2(WDR62):c.1043+3A>G rs587784541 0.00009
NM_001083961.2(WDR62):c.1480G>A (p.Gly494Arg) rs587784543 0.00006
NM_001083961.2(WDR62):c.3514+1G>A rs199736219 0.00002
NM_001083961.2(WDR62):c.1486C>T (p.Arg496Trp) rs587784544 0.00001
NM_001083961.2(WDR62):c.2333+2T>C rs536578692 0.00001
NM_001083961.2(WDR62):c.778T>C (p.Cys260Arg) rs757091694 0.00001
NM_001083961.2(WDR62):c.1212del (p.Ser405fs) rs1599774265
NM_001083961.2(WDR62):c.1233+5G>C
NM_001083961.2(WDR62):c.1234-1G>A rs2145706114
NM_001083961.2(WDR62):c.1963T>A (p.Tyr655Asn) rs2145777243
NM_001083961.2(WDR62):c.1973_1974del (p.Val658fs) rs766107653
NM_001083961.2(WDR62):c.1987AAG[1] (p.Lys664del) rs764610550
NM_001083961.2(WDR62):c.2263del (p.His755fs) rs1064797237
NM_001083961.2(WDR62):c.2396_2397del (p.Glu799fs) rs747870811
NM_001083961.2(WDR62):c.3082+2T>C
NM_001083961.2(WDR62):c.4234dup (p.Leu1412fs) rs1599851667
NM_001083961.2(WDR62):c.4264_4265delinsGTGGTCTGAG (p.His1422delinsValValTer) rs1064793462
NM_001083961.2(WDR62):c.4464_4471dup (p.Pro1491fs) rs1599852762

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