List of variants reported as likely benign for Transcobalamin II deficiency by Illumina Laboratory Services, Illumina

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

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NC_000022.11:g.30607082C>T	rs5753231	0.14252
NM_000355.4(TCN2):c.*300T>G	rs187942607	0.00942
NM_000355.4(TCN2):c.877C>T (p.Leu293=)	rs45624233	0.00338
NM_000355.4(TCN2):c.360G>A (p.Arg120=)	rs115272037	0.00321
NM_000355.4(TCN2):c.554C>T (p.Pro185Leu)	rs146009793	0.00188
NM_000355.4(TCN2):c.623G>A (p.Arg208His)	rs150472705	0.00154
NM_000355.4(TCN2):c.523G>A (p.Val175Met)	rs142791153	0.00134
NM_000355.4(TCN2):c.509G>A (p.Arg170Gln)	rs117353193	0.00047
NM_000355.4(TCN2):c.501C>T (p.His167=)	rs144652799	0.00024
NM_000355.4(TCN2):c.547G>A (p.Val183Met)	rs201925682	0.00011
NM_000355.4(TCN2):c.*209G>C	rs146450057
NM_000355.4(TCN2):c.*313dup	rs397940476

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