ClinVar Miner

List of variants in gene HEXA reported as uncertain significance by CeGaT Praxis fuer Humangenetik Tuebingen

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Gene type:
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Total variants: 7
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HGVS dbSNP
NM_000520.6(HEXA):c.1231G>A (p.Gly411Ser) rs575121167
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr) rs145012038
NM_000520.6(HEXA):c.1549C>G (p.Leu517Val)
NM_000520.6(HEXA):c.410G>A (p.Arg137Gln)
NM_000520.6(HEXA):c.698T>C (p.Ile233Thr)
NM_000520.6(HEXA):c.72G>T (p.Trp24Cys) rs1555475519
NM_000520.6(HEXA):c.739C>T (p.Arg247Trp) rs121907970

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