ClinVar Miner

List of variants in gene GABRG2 reported as likely pathogenic by Invitae

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Total variants: 12
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HGVS dbSNP
NC_000005.10:g.(?_162142144)_(162153388_?)del
NM_198903.2(GABRG2):c.1181G>T (p.Gly394Val) rs1060501888
NM_198903.2(GABRG2):c.245G>A (p.Arg82Gln) rs121909673
NM_198903.2(GABRG2):c.269C>T (p.Thr90Met) rs1057520498
NM_198903.2(GABRG2):c.501C>A (p.Asn167Lys) rs1581351046
NM_198903.2(GABRG2):c.889G>A (p.Gly297Arg) rs1554098235
NM_198904.4(GABRG2):c.107+1G>A
NM_198904.4(GABRG2):c.259+1G>C
NM_198904.4(GABRG2):c.259+2T>A
NM_198904.4(GABRG2):c.632-2A>T
NM_198904.4(GABRG2):c.769+1G>A
NM_198904.4(GABRG2):c.962T>C (p.Ile321Thr)

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