List of variants reported as pathogenic for homocystinuria by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)	rs398124292	0.00093
NM_000071.3(CBS):c.572C>T (p.Thr191Met)	rs121964973	0.00006
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter)	rs370596113	0.00006
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser)	rs200895671

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