List of variants reported as uncertain significance for Methylmalonic acidemia by Illumina Laboratory Services, Illumina

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 35

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HGVS	dbSNP	gnomAD frequency
NM_032601.3(MCEE):c.-36C>G	rs201494468	0.00006
NM_172250.3(MMAA):c.*1838G>A	rs886059098	0.00006
NM_052845.3(MMAB):c.-69G>A	rs886048928	0.00001
NM_172250.3(MMAA):c.*2019A>G	rs886059102	0.00001
NM_000255.4(MMUT):c.*162A>C	rs886061557
NM_000255.4(MMUT):c.-155del	rs886061562
NM_052845.3(MMAB):c.-49G>A	rs748326668
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.-9G>T	rs554831769
NM_052845.4(MMAB):c.378G>T (p.Ser126=)	rs749452007
NM_172250.3(MMAA):c.1897_1901del	rs377206435
NM_172250.3(MMAA):c.*2617C>A	rs886059108
NM_172250.3(MMAA):c.*3257del	rs886059113
NM_172250.3(MMAA):c.*3356del	rs577478683
NM_172250.3(MMAA):c.*589C>G	rs886059095

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