ClinVar Miner

List of variants studied for alpha thalassemia spectrum by MOLECULAR BIOLOGY AND HUMAN GENETICS DIVISION, THE UNIVERSITY OF BURDWAN

Included ClinVar conditions (8):

Dominant beta-thalassemia; Fetal hemoglobin quantitative trait locus 1; Heinz body anemia; Hb SS disease; alpha Thalassemia; Malaria, susceptibility to; beta Thalassemia; METHEMOGLOBINEMIA, BETA TYPE; Erythrocytosis, familial, 6
Dominant beta-thalassemia; Heinz body anemia; Hb SS disease; alpha Thalassemia; Beta-thalassemia HBB/LCRB
Dominant beta-thalassemia; Heinz body anemia; Hb SS disease; alpha Thalassemia; METHEMOGLOBINEMIA, BETA TYPE; Erythrocytosis, familial, 6; Hereditary persistence of fetal hemoglobin; Beta-thalassemia HBB/LCRB
Dominant beta-thalassemia; Heinz body anemia; Hb SS disease; alpha Thalassemia; Malaria, susceptibility to; METHEMOGLOBINEMIA, BETA TYPE; Erythrocytosis, familial, 6; Hereditary persistence of fetal hemoglobin; Beta-thalassemia HBB/LCRB
Heinz body anemia; alpha Thalassemia; Hemoglobin H disease; Erythrocytosis, familial, 7
Heinz body anemia; alpha Thalassemia; Hemoglobin H disease; Methemoglobinemia, alpha type; Erythrocytosis, familial, 7
Hemoglobin H disease
alpha Thalassemia

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000517.6(HBA2):c.-43G>C	rs71382271	1.00000
NM_000517.6(HBA2):c.*107A>G	rs2541640	0.99446
NC_000016.10:g.173736A>G	rs2685121	0.86184
NM_000558.5(HBA1):c.-24C>G	rs374054030	0.04936
NM_000558.5(HBA1):c.300+55G>T	rs148228241	0.01925
NM_000517.6(HBA2):c.300+55T>G	rs2362746	0.01848
NC_000016.10:g.169818_174075del
NC_000016.10:g.173384_177187dup
NG_000006.1(HBA1):g.34247_38050del
NM_000517.6(HBA2):c.93_94del	rs63751268
NM_000517.6(HBA2):c.123G>C (p.Lys41Asn)	rs281864471
NM_000517.6(HBA2):c.301-24delinsCTCGGCCC	rs1596570272

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