ClinVar Miner

List of variants in gene MMAB reported as uncertain significance for Methylmalonic acidemia

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_052845.4(MMAB):c.*1076_*1079del rs886048920
NM_052845.4(MMAB):c.*1554_*1556del rs886048918
NM_052845.4(MMAB):c.*1554del rs886048919
NM_052845.4(MMAB):c.*1576_*1578del rs34507867
NM_052845.4(MMAB):c.*1577_*1578del rs34507867
NM_052845.4(MMAB):c.*1578del rs34507867
NM_052845.4(MMAB):c.*1748_*1752dup rs746823302
NM_052845.4(MMAB):c.*1859TA[10] rs10623308
NM_052845.4(MMAB):c.*2950C>T rs766894935
NM_052845.4(MMAB):c.*336TG[19] rs67024670
NM_052845.4(MMAB):c.*336TG[20] rs67024670
NM_052845.4(MMAB):c.*336TG[21] rs67024670
NM_052845.4(MMAB):c.*336TG[23] rs67024670
NM_052845.4(MMAB):c.*336TG[24] rs67024670
NM_052845.4(MMAB):c.*336TG[25] rs67024670
NM_052845.4(MMAB):c.*364_*378delinsAGA rs886048926
NM_052845.4(MMAB):c.*366_*378delinsAGA rs886048925
NM_052845.4(MMAB):c.*368_*378delinsA rs886048924
NM_052845.4(MMAB):c.*368_*378delinsAGA rs886048924
NM_052845.4(MMAB):c.*380AG[3] rs370296168
NM_052845.4(MMAB):c.*380AG[5] rs370296168
NM_052845.4(MMAB):c.378G>T (p.Ser126=) rs749452007

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