ClinVar Miner

List of variants in gene HBB reported as pathogenic

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Total variants: 27
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HGVS dbSNP
HBB, -101C-G, PROMOTER
HBB, -30T-C, PROMOTER
HBB, -88C-A
HBB, 1-BP DEL
HBB, 1-BP DEL, C
HBB, 1-BP INS, CODON 20/21, FS
HBB, 106-KB DEL
HBB, 2-BP INS, 25TA
HBB, 3-UNT, A DEL, +4
HBB, 3-UNT, G INS, +4
HBB, CAP, A-C
HBB, HBB/HBD FUSION
HBB, HBB/HBD FUSION, HBD137DEL
HBB, HIS143GLN
HBB, IVS1, T-A, +2
HBB, IVS1, T-G, +2
HBB, IVS1, T-G, -3
HBB, IVS1AS, G-C, -1
HBB, IVS2, A-C, -2
HBB, IVS2, A-G, -2
HBB, IVS2, T-C, +2
HBB, IVS2, T-G, +705
HBB, IVS2AS, G-A, -1
HBB, TYR145ASN-TO-ASP
NM_000518.4:c.91+6T>C
c.17delA
chr11:g.(LOH11A_HBB)del

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