List of variants in gene combination LOC121853040, TCN2 reported as likely benign for Transcobalamin II deficiency

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NC_000022.11:g.30607082C>T	rs5753231	0.14252
NM_000355.4(TCN2):c.64+13C>T	rs370228236	0.00005
NM_000355.4(TCN2):c.64+14C>T	rs756966926	0.00003
NM_000355.4(TCN2):c.18C>T (p.Ala6=)	rs773549344	0.00002
NM_000355.4(TCN2):c.64+12G>A	rs777313334	0.00001
NM_000355.4(TCN2):c.64+18A>G	rs780327616	0.00001
NM_000355.4(TCN2):c.64+20C>T	rs1602039338	0.00001
NM_000355.4(TCN2):c.64+9C>T	rs1410673132	0.00001
NM_000355.4(TCN2):c.21C>T (p.Phe7=)	rs200848171
NM_000355.4(TCN2):c.24C>G (p.Leu8=)	rs2517894753
NM_000355.4(TCN2):c.27C>T (p.Phe9=)	rs2517894763
NM_000355.4(TCN2):c.30T>A (p.Leu10=)	rs2145528985
NM_000355.4(TCN2):c.33G>A (p.Leu11=)	rs1027452763
NM_000355.4(TCN2):c.54T>C (p.Thr18=)	rs1288298673
NM_000355.4(TCN2):c.57G>A (p.Glu19=)	rs2517894864
NM_000355.4(TCN2):c.64+12_64+16del
NM_000355.4(TCN2):c.64+15T>C	rs2517894927
NM_000355.4(TCN2):c.64+16C>G	rs2145529135
NM_000355.4(TCN2):c.64+19T>A	rs2517894936

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