List of variants in gene ADA reported as pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_000022.4(ADA):c.986C>T (p.Ala329Val)	rs121908715	0.00021
NM_000022.4(ADA):c.632G>A (p.Arg211His)	rs121908716	0.00009
NM_000022.4(ADA):c.320T>C (p.Leu107Pro)	rs121908739	0.00007
NM_000022.4(ADA):c.646G>A (p.Gly216Arg)	rs121908723	0.00006
NM_000022.4(ADA):c.478+1G>A	rs761242509	0.00003
NM_000022.4(ADA):c.424C>T (p.Arg142Ter)	rs780014431	0.00001
NM_000022.4(ADA):c.466C>T (p.Arg156Cys)	rs121908735	0.00001
NM_000022.4(ADA):c.467G>A (p.Arg156His)	rs121908722	0.00001
NM_000022.4(ADA):c.845G>A (p.Arg282Gln)	rs751635016	0.00001
NM_000022.4(ADA):c.302G>A (p.Arg101Gln)	rs121908714
NM_000022.4(ADA):c.311C>T (p.Pro104Leu)	rs1452483770
NM_000022.4(ADA):c.956_960del (p.Glu319fs)	rs771266745
NM_000022.4(ADA):c.975+1G>A	rs2065325898
NM_000022.4(ADA):c.996_997del (p.Ser333fs)	rs2123508053

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