List of variants reported as pathogenic for autosomal recessive disease by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)	rs36053993	0.00341
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)	rs34612342	0.00168
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)	rs200389141	0.00017
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs)	rs113993962
NM_002485.5(NBN):c.1142del (p.Pro381fs)	rs587781969
NM_002485.5(NBN):c.657_661del (p.Lys219fs)	rs587776650

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