List of variants in gene LARGE1 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_133642.5(LARGE1):c.1420G>A (p.Val474Ile)	rs150861748	0.00119
NM_133642.5(LARGE1):c.408+8G>A	rs141818070	0.00103
NM_133642.5(LARGE1):c.1092C>T (p.Thr364=)	rs144216539	0.00100
NM_133642.5(LARGE1):c.211G>A (p.Glu71Lys)	rs116164106	0.00057
NM_133642.5(LARGE1):c.1599C>T (p.Ile533=)	rs12627793	0.00012
NM_133642.5(LARGE1):c.2213T>C (p.Met738Thr)	rs776954687	0.00005
NM_133642.5(LARGE1):c.26G>A (p.Arg9Gln)	rs763697782	0.00004
NM_133642.5(LARGE1):c.2208G>A (p.Gln736=)	rs759427879	0.00003
NM_133642.5(LARGE1):c.1792G>A (p.Glu598Lys)	rs144045461	0.00002
NM_133642.5(LARGE1):c.615+8C>T	rs587783731	0.00002
NM_133642.5(LARGE1):c.861A>G (p.Pro287=)	rs1257326994

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