ClinVar Miner

List of variants in gene GABRG2 reported by Athena Diagnostics Inc

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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_198904.4(GABRG2):c.631+1248A>G rs211035 0.82291
NM_198904.4(GABRG2):c.588C>T (p.Asn196=) rs211037 0.31659
NM_198904.4(GABRG2):c.632-1264G>T rs41311629 0.10834
NM_198904.4(GABRG2):c.315C>T (p.Asn105=) rs11135176 0.07676
NM_198904.4(GABRG2):c.631+1284G>T rs148215078 0.00925
NM_198904.4(GABRG2):c.360G>A (p.Thr120=) rs77298346 0.00541
NM_198904.4(GABRG2):c.922+6A>G rs375294947 0.00023
NM_198904.4(GABRG2):c.1320G>A (p.Gly440=) rs150727562 0.00020
NM_198904.4(GABRG2):c.1207A>G (p.Thr403Ala) rs757868774 0.00011
NM_198904.4(GABRG2):c.1156C>T (p.Pro386Ser) rs757311213 0.00001
NM_198904.4(GABRG2):c.1172G>A (p.Arg391His) rs528036202 0.00001
NM_198904.4(GABRG2):c.375T>A (p.Arg125=) rs767423340 0.00001
NM_198904.4(GABRG2):c.1228G>T (p.Glu410Ter) rs1561662283
NM_198904.4(GABRG2):c.631+1283G>A rs143065876

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