ClinVar Miner

List of variants in gene HBD studied for anemia

Included ClinVar conditions (281):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000519.4(HBD):c.*59C>G rs755421119 0.00010
NM_000519.4(HBD):c.60C>T (p.Asn20=) rs777991732 0.00004
NM_000519.4(HBD):c.*96G>T rs1042760103 0.00002
NM_000519.4(HBD):c.*65T>C rs1847687778
NM_000519.4(HBD):c.*91G>A rs886048394
NM_000519.4(HBD):c.6G>A (p.Val2=) rs1454993638

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