ClinVar Miner

List of variants reported as pathogenic for methionine adenosyltransferase deficiency by Invitae

Included ClinVar conditions (1):
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000429.3(MAT1A):c.529C>T (p.Arg177Trp) rs376757912 0.00003
NM_000429.3(MAT1A):c.895C>T (p.Arg299Cys) rs376993881 0.00003
NM_000429.3(MAT1A):c.1070C>T (p.Pro357Leu) rs118204003 0.00002
NM_000429.3(MAT1A):c.538_539insTG (p.Ser180fs) rs944263459 0.00001
NM_000429.3(MAT1A):c.595C>T (p.Arg199Cys) rs773267230 0.00001
NM_000429.3(MAT1A):c.596G>A (p.Arg199His) rs144099376 0.00001
NC_000010.11:g.80275200del
NM_000429.3(MAT1A):c.1042del (p.Val348fs)
NM_000429.3(MAT1A):c.1066C>T (p.Arg356Trp) rs116659053
NM_000429.3(MAT1A):c.110T>C (p.Ile37Thr)
NM_000429.3(MAT1A):c.125_131del (p.Leu42fs)
NM_000429.3(MAT1A):c.260T>A (p.Ile87Asn)
NM_000429.3(MAT1A):c.355C>T (p.Gln119Ter)
NM_000429.3(MAT1A):c.705C>A (p.Tyr235Ter)
NM_000429.3(MAT1A):c.768+2T>A
NM_000429.3(MAT1A):c.773A>T (p.Asp258Val) rs1241692940
NM_000429.3(MAT1A):c.776C>T (p.Ala259Val) rs138556525
NM_000429.3(MAT1A):c.790C>T (p.Arg264Cys) rs118204005
NM_000429.3(MAT1A):c.791G>A (p.Arg264His) rs72558181
NM_000429.3(MAT1A):c.874C>T (p.Arg292Cys)

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