List of variants reported as pathogenic for homocystinuria by Revvity Omics, Revvity

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Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)	rs398124292	0.00093
NM_000071.3(CBS):c.833T>C (p.Ile278Thr)	rs5742905	0.00083
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs)	rs749272546	0.00062
NM_000071.3(CBS):c.146C>T (p.Pro49Leu)	rs148865119	0.00013
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter)	rs121918242	0.00011
NM_000071.3(CBS):c.1224-2A>C	rs375846341	0.00008
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln)	rs121918243	0.00007
NM_000071.3(CBS):c.572C>T (p.Thr191Met)	rs121964973	0.00006
NM_000071.3(CBS):c.1135C>T (p.Arg379Trp)	rs769080151	0.00003
NM_000071.3(CBS):c.374G>A (p.Arg125Gln)	rs781444670	0.00003
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys)	rs398123151	0.00002
NM_015702.3(MMADHC):c.419dup (p.Tyr140Ter)	rs397509363	0.00002
NM_018368.4(LMBRD1):c.1339-1G>T	rs768709895	0.00002
NM_000071.3(CBS):c.1111G>A (p.Val371Met)	rs372010465	0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)	rs121918241	0.00001
NM_015702.3(MMADHC):c.154+1G>A	rs1385597423	0.00001
NM_000071.3(CBS):c.1223+1G>T	rs1601339216
NM_000071.3(CBS):c.1227_1240del (p.Trp409fs)
NM_000071.3(CBS):c.209+1G>A	rs751464024
NM_000071.3(CBS):c.253G>A (p.Gly85Arg)	rs863223435
NM_000254.3(MTR):c.1992_1993insATCA (p.Glu665fs)	rs1572278166
NM_005957.5(MTHFR):c.1541_1542del (p.Glu514fs)	rs764338697
NM_005957.5(MTHFR):c.1750A>T (p.Lys584Ter)	rs1644092513
NM_005957.5(MTHFR):c.547C>T (p.Arg183Ter)	rs121434294
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs)	rs796052000
NM_015506.3(MMACHC):c.352del (p.Gln118fs)	rs749264632
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp)	rs140522266
NM_015506.3(MMACHC):c.445_446del (p.Cys149fs)	rs796051999

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