List of variants in gene WDR62 reported as pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001083961.2(WDR62):c.3304C>T (p.Gln1102Ter)	rs376633424	0.00009
NM_001083961.2(WDR62):c.3462+1G>A	rs369923535	0.00003
NM_001083961.2(WDR62):c.1941C>A (p.Cys647Ter)	rs769688376	0.00002
NM_001083961.2(WDR62):c.3514+1G>A	rs199736219	0.00002
NM_001083961.2(WDR62):c.1157G>A (p.Trp386Ter)	rs1265252597	0.00001
NM_001083961.2(WDR62):c.1531G>A (p.Asp511Asn)	rs387907083	0.00001
NM_001083961.2(WDR62):c.1777_1778del (p.Asp593fs)
NM_001083961.2(WDR62):c.1821dup (p.Arg608fs)	rs1213710245
NM_001083961.2(WDR62):c.2086del (p.Ser696fs)	rs863223322
NM_001083961.2(WDR62):c.2467+2T>G	rs886041863
NM_001083961.2(WDR62):c.2520+5G>T	rs754976942
NM_001083961.2(WDR62):c.2746_2747del (p.Gln918fs)	rs764201220
NM_001083961.2(WDR62):c.3462+1G>C
NM_001083961.2(WDR62):c.3936dup (p.Val1313fs)	rs587776900
NM_001083961.2(WDR62):c.4226dup (p.Ser1410fs)	rs1555725014
NM_001083961.2(WDR62):c.640_642delinsTT (p.Val214fs)	rs2145586693

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