ClinVar Miner

List of variants in gene combination HBB, LOC106099062, LOC107133510 reported as likely pathogenic for not provided

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Total variants: 11
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HGVS dbSNP
NM_000518.4(HBB):c.137T>C (p.Phe46Ser) rs33978338
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415
NM_000518.5(HBB):c.-50A>C rs34305195
NM_000518.5(HBB):c.-75G>C rs63750400
NM_000518.5(HBB):c.-80T>A rs33980857
NM_000518.5(HBB):c.221_224dup (p.Leu76fs) rs1564875128
NM_000518.5(HBB):c.249G>C (p.Lys83Asn) rs33991993
NM_000518.5(HBB):c.253del (p.Thr85fs) rs1554917831
NM_000518.5(HBB):c.33dup (p.Val12fs) rs1554918214
NM_000518.5(HBB):c.75T>A (p.Gly25=) rs33951465
NM_000518.5(HBB):c.92G>A (p.Arg31Lys) rs33960103

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