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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)	rs387906309	0.00046
NM_000520.6(HEXA):c.1073+1G>A	rs76173977	0.00021
NM_000520.6(HEXA):c.459+5G>A	rs762060470	0.00009
NM_000520.6(HEXA):c.806-7G>A	rs770932296	0.00006
NM_000520.6(HEXA):c.986+3A>G	rs200926928	0.00004
NM_000520.6(HEXA):c.1302C>G (p.Phe434Leu)	rs202173526	0.00002
NM_000520.6(HEXA):c.1393G>A (p.Asp465Asn)	rs750727201	0.00001
NM_000520.6(HEXA):c.536A>G (p.His179Arg)	rs747372270	0.00001
NM_000520.6(HEXA):c.772G>C (p.Asp258His)	rs121907971	0.00001
NM_000520.6(HEXA):c.972T>A (p.Val324=)	rs28942072	0.00001
NM_000520.6(HEXA):c.1142_1146del (p.Val381fs)	rs1595798033
NM_000520.6(HEXA):c.21G>A (p.Trp7Ter)	rs1407480461
NM_000520.6(HEXA):c.530C>G (p.Ser177Cys)	rs1064794856
NM_000520.6(HEXA):c.533G>T (p.Arg178Leu)	rs28941770
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr)	rs121907973
NM_000520.6(HEXA):c.611A>G (p.His204Arg)	rs121907976
NM_000520.6(HEXA):c.748G>A (p.Gly250Ser)	rs1057521137

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