ClinVar Miner

List of variants in gene combination HBB, LOC106099062, LOC107133510 reported as likely pathogenic by Integrated Genetics/Laboratory Corporation of America

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Total variants: 10
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HGVS dbSNP
NM_000518.4(HBB):c.-77_-76delAA rs63750953
NM_000518.4(HBB):c.201delA (p.Val68Cysfs) rs193922553
NM_000518.4(HBB):c.203_204delTG (p.Val68Alafs) rs34282684
NM_000518.4(HBB):c.226delC (p.Leu76Trpfs) rs34218908
NM_000518.4(HBB):c.2T>A (p.Met1Lys) rs33941849
NM_000518.4:c.176delC
NM_000518.5(HBB):c.-136C>T rs33994806
NM_000518.5(HBB):c.-137C>A rs33941377
NM_000518.5(HBB):c.19_20delGAinsAT (p.Glu7Met) rs193922552
NM_000518.5(HBB):c.92G>A (p.Arg31Lys) rs33960103

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