ClinVar Miner

List of variants in gene HEXA reported as likely pathogenic for not provided

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Total variants: 8
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NM_000520.6(HEXA):c.1073+1G>A rs76173977
NM_000520.6(HEXA):c.1142_1146del (p.Val381fs) rs1595798033
NM_000520.6(HEXA):c.1302C>G (p.Phe434Leu) rs202173526
NM_000520.6(HEXA):c.21G>A (p.Trp7Ter) rs1407480461
NM_000520.6(HEXA):c.459+5G>A rs762060470
NM_000520.6(HEXA):c.530C>G (p.Ser177Cys) rs1064794856
NM_000520.6(HEXA):c.536A>G (p.His179Arg) rs747372270
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr) rs121907973

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