ClinVar Miner

List of variants in gene GABRG2 reported as pathogenic by GeneDx

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Total variants: 10
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GRCh37/hg19 5q34(chr5:161493370-161531041)x1
NM_198903.2(GABRG2):c.1039T>G (p.Leu347Val) rs796052509
NM_198903.2(GABRG2):c.1088G>A (p.Arg363Gln) rs397514737
NM_198903.2(GABRG2):c.1480C>T (p.Arg494Trp) rs796052515
NM_198903.2(GABRG2):c.245G>A (p.Arg82Gln) rs121909673
NM_198903.2(GABRG2):c.272T>G (p.Leu91Ter) rs796052518
NM_198903.2(GABRG2):c.316G>A (p.Ala106Thr) rs796052505
NM_198903.2(GABRG2):c.351dup (p.Ala118fs) rs1554097873
NM_198903.2(GABRG2):c.890-1G>A rs796052507
NM_198903.2(GABRG2):c.964C>A (p.Pro322Thr) rs796052508

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