ClinVar Miner

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

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Total variants: 13
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HGVS dbSNP
NM_000520.6(HEXA):c.1073+1G>A rs76173977
NM_000520.6(HEXA):c.1231G>A (p.Gly411Ser) rs575121167
NM_000520.6(HEXA):c.1302C>G (p.Phe434Leu) rs202173526
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr) rs145012038
NM_000520.6(HEXA):c.1549C>G (p.Leu517Val) rs1595795490
NM_000520.6(HEXA):c.410G>A (p.Arg137Gln)
NM_000520.6(HEXA):c.459+5G>A rs762060470
NM_000520.6(HEXA):c.533G>A (p.Arg178His) rs28941770
NM_000520.6(HEXA):c.698T>C (p.Ile233Thr) rs1595800112
NM_000520.6(HEXA):c.72G>T (p.Trp24Cys) rs1555475519
NM_000520.6(HEXA):c.739C>T (p.Arg247Trp) rs121907970
NM_000520.6(HEXA):c.759G>A (p.Val253=) rs117513345
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954

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