ClinVar Miner

List of variants in gene HBD reported as other

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Total variants: 16
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HGVS dbSNP
HBD, HBD1-12/HBB22-50/HBD87-146 FUSION
NM_000519.3(HBD):c.350G>A (p.Arg117His) rs34536353
NM_000519.3(HBD):c.365A>T (p.Glu122Val) rs35790721
NM_000519.3(HBD):c.376C>G (p.Gln126Glu) rs36078803
NM_000519.3(HBD):c.39T>A (p.Asn13Lys) rs34313675
NM_000519.3(HBD):c.410G>A (p.Gly137Asp) rs35849348
NM_000519.3(HBD):c.428C>A (p.Ala143Asp) rs35848600
NM_000519.3(HBD):c.49G>C (p.Gly17Arg) rs34012192
NM_000519.3(HBD):c.62T>A (p.Val21Glu) rs34093840
NM_000519.3(HBD):c.68C>A (p.Ala23Glu) rs35395083
NM_000519.3(HBD):c.8A>G (p.His3Arg) rs35433207
NM_000519.4(HBD):c.349C>T (p.Arg117Cys) rs33971270
NM_000519.4(HBD):c.401T>C (p.Val134Ala) rs34802738
NM_000519.4(HBD):c.425T>C (p.Leu142Pro) rs33956485
NM_000519.4(HBD):c.440A>G (p.His147Arg) rs34149886
NM_000519.4(HBD):c.5T>C (p.Val2Ala) rs34991152

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