ClinVar Miner

List of variants in gene HEXA reported by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP
NM_000520.6(HEXA):c.-4G>A rs766510036
NM_000520.6(HEXA):c.1028G>T (p.Gly343Val) rs191330716
NM_000520.6(HEXA):c.102C>T (p.Asp34=) rs377310315
NM_000520.6(HEXA):c.1073C>T (p.Thr358Met) rs552505619
NM_000520.6(HEXA):c.1107C>T (p.Gly369=) rs140337137
NM_000520.6(HEXA):c.1146+8G>A rs201453018
NM_000520.6(HEXA):c.1178G>A (p.Arg393Gln) rs370266293
NM_000520.6(HEXA):c.1216C>T (p.Leu406=) rs140482769
NM_000520.6(HEXA):c.1230C>T (p.Ala410=) rs751185874
NM_000520.6(HEXA):c.1231G>A (p.Gly411Ser) rs575121167
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=) rs587779406
NM_000520.6(HEXA):c.1338T>C (p.Pro446=) rs34085965
NM_000520.6(HEXA):c.134A>C (p.Gln45Pro) rs144089645
NM_000520.6(HEXA):c.1529G>A (p.Arg510Gln)
NM_000520.6(HEXA):c.1556T>A (p.Val519Glu)
NM_000520.6(HEXA):c.254-33G>A
NM_000520.6(HEXA):c.259C>T (p.Arg87Trp) rs573269641
NM_000520.6(HEXA):c.517C>T (p.Leu173=) rs200743199
NM_000520.6(HEXA):c.548T>A (p.Leu183His) rs185797496
NM_000520.6(HEXA):c.582G>A (p.Ala194=) rs112614306
NM_000520.6(HEXA):c.69C>G (p.Leu23=) rs143554538
NM_000520.6(HEXA):c.72G>T (p.Trp24Cys) rs1555475519
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys) rs566580738
NM_000520.6(HEXA):c.789T>C (p.Thr263=)
NM_000520.6(HEXA):c.836C>G (p.Ser279Cys) rs148199798
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr) rs374524755
NM_000520.6(HEXA):c.906C>T (p.Ser302=) rs765612435
NM_000520.6(HEXA):c.93A>T (p.Gln31His)
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428

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