ClinVar Miner

List of variants in gene GABRG2 reported as pathogenic

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Total variants: 25
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HGVS dbSNP
GRCh37/hg19 5q34(chr5:161493370-161531041)x1
GRCh37/hg19 5q34(chr5:161547032-161575610)x1
GRCh37/hg19 5q34(chr5:161547033-161572618)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.1103A>T (p.Lys368Met) rs121909672
NM_198903.2(GABRG2):c.1155del (p.Phe385fs)
NM_198903.2(GABRG2):c.1312C>T (p.Gln438Ter) rs121909674
NM_198903.2(GABRG2):c.1348G>T (p.Glu450Ter) rs1561662283
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.406C>T (p.Arg136Ter)
NM_198903.2(GABRG2):c.529C>G (p.Arg177Gly) rs267606837
NM_198903.2(GABRG2):c.530del (p.Arg177fs) rs878854144
NM_198903.2(GABRG2):c.549-3T>G rs750459631
NM_198903.2(GABRG2):c.797_801del (p.Ser265_Ser266insTer) rs1554098222
NM_198903.2(GABRG2):c.889+2T>G rs1561645243
NM_198903.2(GABRG2):c.889G>A (p.Gly297Arg) rs1554098235
NM_198903.2(GABRG2):c.890-1G>A rs796052507
NM_198903.2(GABRG2):c.937G>T (p.Gly313Ter) rs1469287853
NM_198903.2(GABRG2):c.964C>A (p.Pro322Thr) rs796052508
NM_198903.2(GABRG2):c.964C>T (p.Pro322Ser) rs796052508

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