List of variants in gene HEXA reported as uncertain significance by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_000520.6(HEXA):c.346+13C>T	rs200871198	0.00173
NM_000520.6(HEXA):c.1416G>C (p.Arg472Ser)	rs369117208	0.00012
NM_000520.6(HEXA):c.10T>C (p.Ser4Pro)	rs146938346	0.00011
NM_000520.6(HEXA):c.1490A>G (p.Tyr497Cys)	rs147502219	0.00007
NM_000520.5(HEXA):c.-2343_-2342delAA	rs561605340	0.00004
NM_000520.6(HEXA):c.640G>A (p.Glu214Lys)	rs1227959449	0.00003
NM_000520.5(HEXA):c.-593T>C	rs1483623884	0.00002
NM_000520.6(HEXA):c.1529G>A (p.Arg510Gln)	rs745432499	0.00001
NM_000520.6(HEXA):c.574G>A (p.Val192Ile)	rs387906310	0.00001
NM_000520.5(HEXA):c.-898A>T	rs2140346088
NM_000520.6(HEXA):c.1008G>T (p.Gln336His)
NM_000520.6(HEXA):c.1074-7_1074-3del	rs759219683
NM_000520.6(HEXA):c.1087_1088delinsTA (p.Val363Tyr)	rs2088636561
NM_000520.6(HEXA):c.1196A>T (p.Asn399Ile)	rs755973971
NM_000520.6(HEXA):c.1382G>T (p.Gly461Val)
NM_000520.6(HEXA):c.358A>G (p.Ile120Val)	rs1567300305
NM_000520.6(HEXA):c.460-13T>C	rs2140326429
NM_000520.6(HEXA):c.499T>G (p.Phe167Val)	rs2088724098
NM_000520.6(HEXA):c.571-20G>T
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.736G>A (p.Ala246Thr)	rs758166013
NM_000520.6(HEXA):c.746G>A (p.Arg249Gln)	rs1297800753
NM_000520.6(HEXA):c.748G>A (p.Gly250Ser)	rs1057521137
NM_000520.6(HEXA):c.788C>T (p.Thr263Ile)	rs1057519462
NM_000520.6(HEXA):c.907A>C (p.Thr303Pro)	rs759837903
NM_000520.6(HEXA):c.962G>A (p.Gly321Glu)	rs1316178162

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