List of variants in gene ADPRS reported as pathogenic for Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures

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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: 9

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HGVS	dbSNP	gnomAD frequency
NM_017825.3(ADPRS):c.1004T>G (p.Val335Gly)	rs201735454	0.00011
NM_017825.3(ADPRS):c.530C>T (p.Ser177Leu)	rs200626873	0.00001
NM_017825.3(ADPRS):c.1000C>T (p.Gln334Ter)	rs1557734377
NM_017825.3(ADPRS):c.100G>A (p.Asp34Asn)	rs1557732234
NM_017825.3(ADPRS):c.146del (p.Thr49fs)	rs2524677372
NM_017825.3(ADPRS):c.235A>C (p.Thr79Pro)	rs1557733311
NM_017825.3(ADPRS):c.292del (p.Val98fs)	rs1557733367
NM_017825.3(ADPRS):c.316C>T (p.Gln106Ter)	rs368433666
NM_017825.3(ADPRS):c.414_418del (p.Ala139fs)	rs1557733597

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