ClinVar Miner

List of variants in gene combination HBB, LOC106099062, LOC107133510 reported as likely pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.-136C>T rs33994806 0.00001
NM_000518.4(HBB):c.-136C>A
NM_000518.4(HBB):c.-77_-76delAA rs63750953
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.19_20delinsAT (p.Glu7Met) rs193922552
NM_000518.5(HBB):c.1A>C (p.Met1Leu) rs34563000
NM_000518.5(HBB):c.201del (p.Val68fs) rs193922553
NM_000518.5(HBB):c.226del (p.Leu76fs) rs34218908
NM_000518.5(HBB):c.233_234del (p.His78fs) rs2133588176
NM_000518.5(HBB):c.292_295dup (p.Val99fs) rs1564874901
NM_000518.5(HBB):c.2T>A (p.Met1Lys) rs33941849
NM_000518.5(HBB):c.64dup (p.Asp22fs) rs1554918165
NM_000518.5(HBB):c.76_92+27del rs63751076
NM_000518.5(HBB):c.8del (p.His3fs) rs1847589398
NM_000518.5(HBB):c.92G>A (p.Arg31Lys) rs33960103

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