ClinVar Miner

List of variants in gene GABRG2 reported as likely pathogenic for Developmental and epileptic encephalopathy, 74

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_198904.4(GABRG2):c.666G>A (p.Trp222Ter) rs1761617556 0.00001
NM_198903.2:c.-61_889+60del
NM_198904.4(GABRG2):c.1061G>T (p.Gly354Val) rs1060501888
NM_198904.4(GABRG2):c.631+4A>G
NM_198904.4(GABRG2):c.737_740del (p.Arg246fs)
NM_198904.4(GABRG2):c.853C>G (p.Leu285Val) rs1554100507
NM_198904.4(GABRG2):c.875T>C (p.Val292Ala)

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