List of variants reported as pathogenic for disorder of methionine catabolism

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_018960.6(GNMT):c.529C>A (p.His177Asn)	rs121907889	0.00039
NM_000687.4(AHCY):c.428A>G (p.Tyr143Cys)	rs121918608	0.00009
NM_000687.4(AHCY):c.257A>G (p.Asp86Gly)	rs773162208	0.00003
NM_018960.6(GNMT):c.149T>C (p.Leu50Pro)	rs121907888	0.00002
NM_000687.4(AHCY):c.145C>T (p.Arg49Cys)	rs369428934	0.00001
NC_000020.10:g.(?_31571600)_(33001705_?)del
NM_000687.4(AHCY):c.145del (p.Arg49fs)
NM_000687.4(AHCY):c.170C>T (p.Thr57Ile)
NM_000687.4(AHCY):c.336G>A (p.Trp112Ter)	rs121918607
NM_000687.4(AHCY):c.649G>A (p.Val217Met)
NM_000687.4(AHCY):c.882del (p.Ile295fs)
NM_006721.4(ADK):c.704A>C (p.Asp235Ala)	rs397514453
NM_006721.4(ADK):c.89G>A (p.Gly30Glu)	rs397514454
NM_006721.4(ADK):c.953C>A (p.Ala318Glu)	rs397514452
NM_018960.6(GNMT):c.422A>G (p.Asn141Ser)	rs864321678

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