ClinVar Miner

List of variants in gene MMAA reported as uncertain significance by Invitae

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Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_172250.3(MMAA):c.1177G>A (p.Glu393Lys) rs144313458 0.00027
NM_172250.3(MMAA):c.941G>A (p.Arg314His) rs148142853 0.00012
NM_172250.3(MMAA):c.7A>G (p.Met3Val) rs527340737 0.00009
NM_172250.3(MMAA):c.940C>T (p.Arg314Cys) rs374795215 0.00009
NM_172250.3(MMAA):c.1078C>T (p.Arg360Trp) rs6812252 0.00008
NM_172250.3(MMAA):c.977G>A (p.Arg326His) rs201547892 0.00007
NM_172250.3(MMAA):c.850G>C (p.Asp284His) rs758654806 0.00006
NM_172250.3(MMAA):c.947G>A (p.Arg316His) rs377228966 0.00006
NM_172250.3(MMAA):c.175G>C (p.Asp59His) rs371779800 0.00005
NM_172250.3(MMAA):c.989G>A (p.Arg330Gln) rs140031911 0.00005
NM_172250.3(MMAA):c.610A>G (p.Met204Val) rs370375675 0.00004
NM_172250.3(MMAA):c.65G>A (p.Arg22Gln) rs375682603 0.00004
NM_172250.3(MMAA):c.347A>G (p.Lys116Arg) rs772082690 0.00002
NM_172250.3(MMAA):c.1157G>A (p.Arg386Gln) rs191643294 0.00001
NM_172250.3(MMAA):c.304G>A (p.Ala102Thr) rs1328584680 0.00001
NM_172250.3(MMAA):c.488T>C (p.Phe163Ser) rs753463116 0.00001
NM_172250.3(MMAA):c.676G>A (p.Glu226Lys) rs1036460255 0.00001
NM_172250.3(MMAA):c.67T>C (p.Cys23Arg) rs889048711 0.00001
NM_172250.3(MMAA):c.721A>G (p.Ile241Val) rs756221585 0.00001
NM_172250.3(MMAA):c.760G>A (p.Ala254Thr) rs769722136 0.00001
NM_172250.3(MMAA):c.763G>C (p.Asp255His) rs1267434098 0.00001
NM_172250.3(MMAA):c.824T>C (p.Ile275Thr) rs1204400776 0.00001
NM_172250.3(MMAA):c.86A>G (p.His29Arg) rs367809749 0.00001
NM_172250.3(MMAA):c.1037A>G (p.Gln346Arg)
NM_172250.3(MMAA):c.1048C>T (p.Leu350Phe) rs866580843
NM_172250.3(MMAA):c.1120del (p.Ser374fs)
NM_172250.3(MMAA):c.1135T>C (p.Phe379Leu) rs1728200540
NM_172250.3(MMAA):c.1142C>T (p.Thr381Ile) rs1057520160
NM_172250.3(MMAA):c.1156C>T (p.Arg386Trp)
NM_172250.3(MMAA):c.1162C>T (p.Gln388Ter)
NM_172250.3(MMAA):c.1198G>T (p.Ala400Ser) rs895867414
NM_172250.3(MMAA):c.128C>T (p.Pro43Leu) rs886059088
NM_172250.3(MMAA):c.185A>G (p.Lys62Arg)
NM_172250.3(MMAA):c.284A>G (p.Gln95Arg)
NM_172250.3(MMAA):c.314T>C (p.Ile105Thr)
NM_172250.3(MMAA):c.335A>G (p.His112Arg) rs2126617469
NM_172250.3(MMAA):c.346A>C (p.Lys116Gln)
NM_172250.3(MMAA):c.362T>C (p.Val121Ala)
NM_172250.3(MMAA):c.457G>A (p.Gly153Ser)
NM_172250.3(MMAA):c.509G>C (p.Arg170Thr)
NM_172250.3(MMAA):c.541C>G (p.Pro181Ala)
NM_172250.3(MMAA):c.562+4A>C rs1336573288
NM_172250.3(MMAA):c.599T>C (p.Leu200Ser)
NM_172250.3(MMAA):c.664A>G (p.Arg222Gly) rs920825350
NM_172250.3(MMAA):c.691T>C (p.Cys231Arg) rs2126622891
NM_172250.3(MMAA):c.730G>T (p.Val244Phe) rs771044996
NM_172250.3(MMAA):c.761C>T (p.Ala254Val)
NM_172250.3(MMAA):c.776T>C (p.Met259Thr) rs1328403056
NM_172250.3(MMAA):c.800C>T (p.Ala267Val) rs138854691
NM_172250.3(MMAA):c.889G>A (p.Val297Met)

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