ClinVar Miner

Variants in gene GABRG2 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 26
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HGVS dbSNP gnomAD frequency
NM_198904.4(GABRG2):c.*348A>G rs192973258 0.00328
NM_198904.4(GABRG2):c.798T>C (p.Phe266=) rs115126975 0.00067
NM_198904.4(GABRG2):c.-104T>G rs886060380 0.00066
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.1236C>T (p.Tyr412=) rs749951528 0.00018
NM_198904.4(GABRG2):c.243T>A (p.Leu81=) rs143295869 0.00014
NM_198904.4(GABRG2):c.1207A>G (p.Thr403Ala) rs757868774 0.00011
NM_198904.4(GABRG2):c.135C>T (p.Asp45=) rs375308385 0.00007
NM_198904.4(GABRG2):c.1254C>T (p.Asp418=) rs113085352 0.00006
NM_198904.4(GABRG2):c.41A>G (p.Tyr14Cys) rs61750979 0.00006
NM_198904.4(GABRG2):c.549-3T>G rs750459631 0.00005
NM_198904.4(GABRG2):c.1189A>G (p.Ile397Val) rs375785093 0.00004
NM_198904.4(GABRG2):c.394A>T (p.Ile132Phe) rs752621588 0.00003
NM_198904.4(GABRG2):c.759G>A (p.Lys253=) rs202124575 0.00002
NM_198904.4(GABRG2):c.1002G>A (p.Ala334=) rs371601817 0.00001
NM_198904.4(GABRG2):c.1110T>C (p.Asp370=) rs201824364 0.00001
NM_198904.4(GABRG2):c.1172G>A (p.Arg391His) rs528036202 0.00001
NM_198904.4(GABRG2):c.1389G>A (p.Leu463=) rs765904792 0.00001
NM_198904.4(GABRG2):c.375T>A (p.Arg125=) rs767423340 0.00001
NM_198904.4(GABRG2):c.37G>A (p.Val13Ile) rs796052502 0.00001
NM_198904.4(GABRG2):c.769+10A>G rs765703079 0.00001
NM_198904.4(GABRG2):c.107+6A>G rs868452487
NM_198904.4(GABRG2):c.1113_1115del (p.Lys374del) rs727503941
NM_198904.4(GABRG2):c.1425G>A (p.Leu475=) rs886060383
NM_198904.4(GABRG2):c.402C>G (p.Val134=) rs562384157

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