ClinVar Miner

List of variants studied for Ataxia-pancytopenia syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_152703.5(SAMD9L):c.4144A>G (p.Asn1382Asp)	rs1792117772	0.00001
NM_152703.5(SAMD9L):c.2519T>A (p.Met840Lys)	rs1304874755

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