ClinVar Miner

List of variants studied for Erythrocytosis, familial, 3; Hemoglobin, high altitude adaptation

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_022051.3(EGLN1):c.287C>T (p.Ala96Val) rs113401862 0.00236
NM_022051.3(EGLN1):c.120C>T (p.Phe40=) rs555121182 0.00029
NM_022051.3(EGLN1):c.41G>A (p.Ser14Asn) rs761497751 0.00014

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