ClinVar Miner

List of variants reported as likely pathogenic for Hemoglobinopathy

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Total variants: 10
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NM_000518.4(HBB):c.374C>G (p.Pro125Arg) rs33983276
NM_000518.5(HBB):c.-137C>A rs33941377
NM_000518.5(HBB):c.126dup (p.Phe43fs)
NM_000518.5(HBB):c.155del (p.Pro52fs) rs63750128
NM_000518.5(HBB):c.176del (p.Pro59fs) rs35395625
NM_000518.5(HBB):c.292_295dup (p.Val99fs) rs1564874901
NM_000518.5(HBB):c.316-1G>A rs33952266
NM_000518.5(HBB):c.396_397del (p.Lys133fs)
NM_000518.5(HBB):c.440_441dup (p.Ter148ThrextTer?) rs33999427
NM_000518.5(HBB):c.8del (p.His3fs)

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