ClinVar Miner

List of variants reported as pathogenic by Biochemistry and Genetic Laboratory, APHP Bichat Claude Bernard Hospital

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001204526.1:c.1_185del
NM_005787.6(ALG3):c.1037A>G (p.Asn346Ser)	rs1560162116
NM_006280.3(SSR4):c.241C>T (p.Gln81Ter)	rs2092148846

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