ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP
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.1178G>A (p.Arg393Gln) rs370266293
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.259C>T (p.Arg87Trp) rs573269641
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.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)

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