ClinVar Miner

List of variants in gene MMAA reported as pathogenic by Invitae

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Gene type:
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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter) rs796051992 0.00003
NM_172250.3(MMAA):c.658G>A (p.Val220Met) rs150376474 0.00003
NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter) rs999844958 0.00002
NM_172250.3(MMAA):c.1076G>A (p.Arg359Gln) rs864309731 0.00001
NM_172250.3(MMAA):c.283C>T (p.Gln95Ter) rs104893846 0.00001
NM_172250.3(MMAA):c.365T>C (p.Leu122Pro) rs760875006 0.00001
NM_172250.3(MMAA):c.434G>A (p.Arg145Gln) rs200577967 0.00001
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter) rs1029096863 0.00001
NM_172250.3(MMAA):c.64C>T (p.Arg22Ter) rs765799472 0.00001
NM_172250.3(MMAA):c.651dup (p.Gly218fs) rs1314623572 0.00001
NM_172250.3(MMAA):c.733+1G>A rs779939886 0.00001
NM_172250.3(MMAA):c.742C>T (p.Gln248Ter) rs757548934 0.00001
NM_172250.3(MMAA):c.756del (p.Val253fs) rs1489525542 0.00001
NM_172250.3(MMAA):c.833G>A (p.Gly278Asp) rs761964238 0.00001
NM_172250.3(MMAA):c.988C>T (p.Arg330Ter) rs571038432 0.00001
NC_000004.11:g.(?_146575136)_(146576596_?)del
NC_000004.12:g.(?_145639120)_(145642505_?)del
NM_172250.3(MMAA):c.1087C>T (p.Gln363Ter)
NM_172250.3(MMAA):c.1098G>A (p.Trp366Ter)
NM_172250.3(MMAA):c.1114C>T (p.Gln372Ter)
NM_172250.3(MMAA):c.1114del (p.Gln372fs) rs765726949
NM_172250.3(MMAA):c.1117G>T (p.Glu373Ter)
NM_172250.3(MMAA):c.1124del (p.Val375fs)
NM_172250.3(MMAA):c.1216_1229GCA[2]GACTTCTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCAGCAGACTTCTT[1] (p.Leu410delinsPhePhePhePhePhePhePheXaaXaaXaaXaaIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer)
NM_172250.3(MMAA):c.124C>T (p.Gln42Ter) rs758345818
NM_172250.3(MMAA):c.127_134dup (p.Ser46fs) rs2126617138
NM_172250.3(MMAA):c.139_140del (p.Leu47fs) rs1560795828
NM_172250.3(MMAA):c.161G>A (p.Trp54Ter) rs864309725
NM_172250.3(MMAA):c.170del (p.Leu57fs)
NM_172250.3(MMAA):c.184_185del (p.Lys62fs)
NM_172250.3(MMAA):c.202C>T (p.Gln68Ter) rs754894257
NM_172250.3(MMAA):c.314dup (p.Thr106fs) rs1727720677
NM_172250.3(MMAA):c.325G>T (p.Glu109Ter)
NM_172250.3(MMAA):c.358C>T (p.Gln120Ter) rs864309727
NM_172250.3(MMAA):c.386dup (p.Tyr129Ter)
NM_172250.3(MMAA):c.388del (p.His130fs)
NM_172250.3(MMAA):c.411_414del (p.Asn137fs) rs1553957931
NM_172250.3(MMAA):c.443T>A (p.Leu148Ter)
NM_172250.3(MMAA):c.450dup (p.Pro151fs) rs754973022
NM_172250.3(MMAA):c.468dup (p.Ser157fs) rs2126619930
NM_172250.3(MMAA):c.503del (p.Thr168fs) rs864309728
NM_172250.3(MMAA):c.551dup (p.Cys184fs) rs1553958159
NM_172250.3(MMAA):c.593_596del (p.Thr198fs) rs796051993
NM_172250.3(MMAA):c.639del (p.Arg214fs) rs2126622813
NM_172250.3(MMAA):c.650T>A (p.Leu217Ter) rs140356252
NM_172250.3(MMAA):c.697G>T (p.Gly233Ter) rs1727922828
NM_172250.3(MMAA):c.713_714del (p.Ile238fs)
NM_172250.3(MMAA):c.72C>A (p.Tyr24Ter) rs1553957883
NM_172250.3(MMAA):c.733+1G>T
NM_172250.3(MMAA):c.762dup (p.Asp255Ter) rs1728076151
NM_172250.3(MMAA):c.795_796dup (p.Pro266fs) rs2126627182
NM_172250.3(MMAA):c.817C>T (p.Gln273Ter)
NM_172250.3(MMAA):c.851del (p.Asp284fs)
NM_172250.3(MMAA):c.898C>T (p.Arg300Ter) rs1340736923
NM_172250.3(MMAA):c.940del (p.Arg314fs)
NM_172250.3(MMAA):c.963_969+4del

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