List of variants reported as likely pathogenic for homocystinuria by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_002454.3(MTRR):c.1769+1G>A	rs778738842	0.00009
NM_005957.5(MTHFR):c.1130G>A (p.Arg377His)	rs750323424	0.00004
NM_002454.3(MTRR):c.166G>A (p.Val56Met)	rs761061866	0.00002
NM_002454.3(MTRR):c.1780A>T (p.Arg594Ter)	rs1293600145	0.00001
NM_005957.5(MTHFR):c.548G>A (p.Arg183Gln)	rs574132670	0.00001
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys)	rs118204046	0.00001
NM_000071.3(CBS):c.1223G>A (p.Trp408Ter)	rs863223433
NM_002454.3(MTRR):c.1371-1G>A	rs1219605974
NM_005957.5(MTHFR):c.1262G>C (p.Trp421Ser)	rs200137991
NM_005957.5(MTHFR):c.1538T>G (p.Leu513Ter)	rs1553185069
NM_005957.5(MTHFR):c.1750A>T (p.Lys584Ter)	rs1644092513
NM_005957.5(MTHFR):c.474A>T (p.Gly158=)	rs199476142
NM_015506.3(MMACHC):c.565C>T (p.Arg189Cys)	rs200895671

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