ClinVar Miner

List of variants in gene GABRG2 reported as likely pathogenic for central nervous system disorder

Included ClinVar conditions (2490):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_198904.4(GABRG2):c.1000G>A (p.Ala334Thr) rs398123523 0.00001
NM_198904.4(GABRG2):c.530G>A (p.Arg177Gln) rs1445637165 0.00001
NM_198904.4(GABRG2):c.631+1254C>T rs886645578 0.00001
NM_198904.4(GABRG2):c.666G>A (p.Trp222Ter) rs1761617556 0.00001
NC_000005.10:g.(?_162142144)_(162153388_?)del
NC_000005.9:g.(?_161520814)_(161531052_?)dup
NM_198903.2:c.-61_889+60del
NM_198904.4(GABRG2):c.1061G>T (p.Gly354Val) rs1060501888
NM_198904.4(GABRG2):c.107+1G>A rs1758364128
NM_198904.4(GABRG2):c.245G>T (p.Arg82Leu)
NM_198904.4(GABRG2):c.247C>A (p.Pro83Thr)
NM_198904.4(GABRG2):c.248C>T (p.Pro83Leu) rs1760808499
NM_198904.4(GABRG2):c.259+1G>C rs2113298764
NM_198904.4(GABRG2):c.259+2T>A rs2113298770
NM_198904.4(GABRG2):c.259+2T>C rs2113298770
NM_198904.4(GABRG2):c.259+5G>T rs2113298784
NM_198904.4(GABRG2):c.260-1G>A rs2113309064
NM_198904.4(GABRG2):c.269C>T (p.Thr90Met) rs1057520498
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr) rs796052505
NM_198904.4(GABRG2):c.328-1G>A
NM_198904.4(GABRG2):c.373C>T (p.Arg125Cys) rs2113325423
NM_198904.4(GABRG2):c.496_498dup (p.Pro166dup) rs2113326854
NM_198904.4(GABRG2):c.501C>A (p.Asn167Lys) rs1581351046
NM_198904.4(GABRG2):c.542C>G (p.Thr181Ser)
NM_198904.4(GABRG2):c.549-1G>T
NM_198904.4(GABRG2):c.631+1G>T
NM_198904.4(GABRG2):c.631+2T>C
NM_198904.4(GABRG2):c.631+4A>G
NM_198904.4(GABRG2):c.632-2A>T rs2113370272
NM_198904.4(GABRG2):c.670C>T (p.Arg224Ter) rs1045493304
NM_198904.4(GABRG2):c.704G>A (p.Trp235Ter) rs1554098226
NM_198904.4(GABRG2):c.737_740del (p.Arg246fs)
NM_198904.4(GABRG2):c.769+1G>A rs2113371247
NM_198904.4(GABRG2):c.853C>G (p.Leu285Val) rs1554100507
NM_198904.4(GABRG2):c.859G>A (p.Val287Ile) rs1764624249
NM_198904.4(GABRG2):c.875T>C (p.Val292Ala)
NM_198904.4(GABRG2):c.899C>A (p.Ala300Asp) rs543339576
NM_198904.4(GABRG2):c.916_922+8del rs2113599162
NM_198904.4(GABRG2):c.941C>A (p.Thr314Lys)
NM_198904.4(GABRG2):c.950C>A (p.Thr317Asn) rs1765173859
NM_198904.4(GABRG2):c.962T>C (p.Ile321Thr) rs1765175867
NM_198904.4(GABRG2):c.967C>G (p.Arg323Gly) rs796052510
NM_198904.4(GABRG2):c.967C>T (p.Arg323Trp) rs796052510

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