List of variants reported as likely pathogenic for homocystinuria by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met)	rs767890671	0.00011
NM_000254.3(MTR):c.2404C>T (p.Arg802Ter)	rs138695265	0.00003
NM_000071.3(CBS):c.1036T>C (p.Cys346Arg)
NM_000071.3(CBS):c.502G>A (p.Val168Met)	rs121964970
NM_002454.3(MTRR):c.781-2A>T
NM_005050.4(ABCD4):c.1588C>T (p.Gln530Ter)	rs767795583
NM_005957.5(MTHFR):c.1348-1G>C
NM_015506.3(MMACHC):c.275_278del (p.Glu92fs)	rs1553162788

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