List of variants in gene B3GALNT2, TBCE studied for Hypoparathyroidism-retardation-dysmorphism syndrome

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_003193.5(TBCE):c.*142T>A	rs7537	0.13128
NM_003193.5(TBCE):c.1400-14T>C	rs150827657	0.00276
NM_003193.5(TBCE):c.1577G>A (p.Arg526Gln)	rs140662460	0.00098
NM_003193.5(TBCE):c.*108A>G	rs78867315	0.00065
NM_003193.5(TBCE):c.1465C>A (p.Leu489Ile)	rs143917509	0.00064
NM_003193.5(TBCE):c.1492-14C>T	rs147400126	0.00027
NM_003193.5(TBCE):c.*39G>A	rs373300985	0.00013
NM_003193.5(TBCE):c.*17T>C	rs773370448	0.00003
NM_003193.5(TBCE):c.*208G>A	rs1218893081	0.00001
NM_003193.5(TBCE):c.*132A>G	rs1682693904
NM_003193.5(TBCE):c.*133T>G	rs1455426794
NM_003193.5(TBCE):c.*177T>C	rs886046153
NM_003193.5(TBCE):c.60_62dup	rs886046152

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