List of variants reported as pathogenic for homocystinuria by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)	rs398124292	0.00093
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys)	rs200094982	0.00014
NM_000071.3(CBS):c.341C>T (p.Ala114Val)	rs121964964	0.00004
NM_005957.5(MTHFR):c.155G>A (p.Arg52Gln)	rs754980119	0.00004
NM_005957.5(MTHFR):c.1699C>T (p.Arg567Ter)	rs140277700	0.00003
NM_005957.5(MTHFR):c.1013T>C (p.Met338Thr)	rs368321176	0.00001
NM_005957.5(MTHFR):c.1166+5G>C	rs1483632178
NM_005957.5(MTHFR):c.1228_1242del (p.Ser410_Lys414del)	rs1297161027

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