ClinVar Miner

List of variants in gene combination HBB, LOC107133510, LOC110006319 reported by Counsyl

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Gene type:
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.*110T>C rs33978907 0.00005
NM_000518.5(HBB):c.316-7C>A rs34483965 0.00003
NM_000518.5(HBB):c.*111A>G rs63751128 0.00001
NM_000518.5(HBB):c.*113A>G rs33985472
NM_000518.5(HBB):c.*132+34C>A rs1277208445
NM_000518.5(HBB):c.316-1G>A rs33952266
NM_000518.5(HBB):c.316-3C>A rs33913413
NM_000518.5(HBB):c.316-7C>G rs34483965
NM_000518.5(HBB):c.328G>A (p.Val110Met) rs33969677
NM_000518.5(HBB):c.364G>T (p.Glu122Ter) rs33946267
NM_000518.5(HBB):c.380T>G (p.Val127Gly) rs33925391

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