List of variants in gene GLRA1 reported as likely pathogenic by Invitae

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_000171.4(GLRA1):c.184+2T>C	rs1754097992	0.00001
NM_000171.4(GLRA1):c.299G>A (p.Arg100His)	rs281864914	0.00001
NM_000171.4(GLRA1):c.523A>G (p.Met175Val)	rs121918414	0.00001
NM_000171.4(GLRA1):c.1258C>T (p.Arg420Cys)
NM_000171.4(GLRA1):c.184+1G>A
NM_000171.4(GLRA1):c.277C>T (p.Arg93Trp)	rs199547699
NM_000171.4(GLRA1):c.560-1G>C	rs748908505
NM_000171.4(GLRA1):c.697+1G>A	rs1753002738
NM_000171.4(GLRA1):c.697+2T>A
NM_000171.4(GLRA1):c.698-2del	rs1752914673
NM_000171.4(GLRA1):c.859A>G (p.Thr287Ala)	rs1554083576
NM_000171.4(GLRA1):c.896G>T (p.Arg299Leu)	rs121918408
NM_000171.4(GLRA1):c.913-1G>A

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