ClinVar Miner

List of variants reported as likely pathogenic for Hemoglobinopathy by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.389C>T (p.Ala130Val) rs111645889 0.00007
NM_000518.4(HBB):c.374C>G (p.Pro125Arg) rs33983276 0.00001
NC_000011.9:g.(5248030_5248159)_(5254322_5255220)del
NM_000518.4(HBB):c.191A>G (p.His64Arg) rs33985544
NM_000518.5(HBB):c.126dup (p.Phe43fs) rs2133588679
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) rs63750320
NM_000518.5(HBB):c.440_441dup (p.Ter148ThrextTer?) rs33999427
NM_000518.5(HBB):c.76_92+27del rs63751076
NM_000518.5(HBB):c.8del (p.His3fs) rs1847589398

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