List of variants in gene ADA2 reported as pathogenic for Sneddon syndrome

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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_001282225.2(ADA2):c.973-2A>G	rs139750129	0.00018
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg)	rs202134424	0.00010
NM_001282225.2(ADA2):c.1358A>G (p.Tyr453Cys)	rs376785840	0.00007
NM_001282225.2(ADA2):c.934C>T (p.Arg312Ter)	rs368615054	0.00006
NM_001282225.2(ADA2):c.1147G>A (p.Gly383Ser)	rs770689762	0.00004
NM_001282225.2(ADA2):c.1078A>G (p.Thr360Ala)	rs775440641	0.00001
NM_001282225.2(ADA2):c.1040del (p.Asp347fs)	rs2062064773
NM_001282225.2(ADA2):c.1110C>A (p.Asn370Lys)	rs1489114116
NM_001282225.2(ADA2):c.1225C>T (p.Pro409Ser)	rs777618863
NM_001282225.2(ADA2):c.139G>C (p.Gly47Arg)	rs202134424
NM_001282225.2(ADA2):c.140G>C (p.Gly47Ala)	rs200930463
NM_001282225.2(ADA2):c.144del (p.Arg49fs)	rs756881285
NM_001282225.2(ADA2):c.144dup (p.Arg49fs)	rs756881285
NM_001282225.2(ADA2):c.631TTC[1] (p.Phe212del)	rs2123699776

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