ClinVar Miner

List of variants in gene combination HBG2, LOC106099065 reported as pathogenic by OMIM

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000184.2(HBG2):c.-228T>C rs63750654 0.00001
NM_000184.2(HBG2):c.-167C>A rs34809449
NM_000184.2(HBG2):c.-167C>T rs34809449
NM_000184.2(HBG2):c.-255C>G rs35617911
NM_000184.2(HBG2):c.277C>T (p.His93Tyr) rs35103459
NM_000184.3(HBG2):c.125T>C (p.Phe42Ser) rs34878913
NM_000184.3(HBG2):c.190C>T (p.His64Tyr) rs34474104
NM_000184.3(HBG2):c.191A>T (p.His64Leu)
NM_000184.3(HBG2):c.202G>A (p.Val68Met) rs587776864

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