List of variants in gene GABRG2 reported as pathogenic by GeneDx

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: 14

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 5q34(chr5:161493370-161531041)x1
NM_198904.4(GABRG2):c.1360C>T (p.Arg454Trp)	rs796052515
NM_198904.4(GABRG2):c.245G>A (p.Arg82Gln)	rs121909673
NM_198904.4(GABRG2):c.269C>T (p.Thr90Met)	rs1057520498
NM_198904.4(GABRG2):c.272T>G (p.Leu91Ter)	rs796052518
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr)	rs796052505
NM_198904.4(GABRG2):c.351dup (p.Ala118fs)	rs1554097873
NM_198904.4(GABRG2):c.452_455del (p.Phe151fs)
NM_198904.4(GABRG2):c.501C>A (p.Asn167Lys)	rs1581351046
NM_198904.4(GABRG2):c.529C>T (p.Arg177Ter)	rs267606837
NM_198904.4(GABRG2):c.770-1G>A	rs796052507
NM_198904.4(GABRG2):c.844C>A (p.Pro282Thr)	rs796052508
NM_198904.4(GABRG2):c.919T>G (p.Leu307Val)	rs796052509
NM_198904.4(GABRG2):c.968G>A (p.Arg323Gln)	rs397514737

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