ClinVar Miner

List of variants in gene GABRG2 studied for not specified

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Gene type:
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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_198904.4(GABRG2):c.588C>T (p.Asn196=) rs211037 0.31659
NM_198904.4(GABRG2):c.315C>T (p.Asn105=) rs11135176 0.07676
NM_198904.4(GABRG2):c.354G>A (p.Ala118=) rs61735412 0.01699
NM_198904.4(GABRG2):c.328-20T>G rs74810777 0.01604
NM_198904.4(GABRG2):c.631+1284G>T rs148215078 0.00925
NM_198904.4(GABRG2):c.632-1262C>A rs114972096 0.00559
NM_198904.4(GABRG2):c.360G>A (p.Thr120=) rs77298346 0.00541
NM_198904.4(GABRG2):c.717A>G (p.Gln239=) rs78261481 0.00489
NM_198904.4(GABRG2):c.798T>C (p.Phe266=) rs115126975 0.00067
NM_198904.4(GABRG2):c.259+20G>A rs200011382 0.00063
NM_198904.4(GABRG2):c.631+18T>A rs145582456 0.00054
NM_198904.4(GABRG2):c.922+20G>A rs11575991 0.00029
NM_198904.4(GABRG2):c.954C>T (p.Leu318=) rs749531013 0.00025
NM_198904.4(GABRG2):c.769+20A>C rs182866753 0.00024
NM_198904.4(GABRG2):c.1320G>A (p.Gly440=) rs150727562 0.00020
NM_198904.4(GABRG2):c.107+12C>T rs369466385 0.00018
NM_198904.4(GABRG2):c.1236C>T (p.Tyr412=) rs749951528 0.00018
NM_198904.4(GABRG2):c.768C>T (p.Ser256=) rs201672465 0.00015
NM_198904.4(GABRG2):c.243T>A (p.Leu81=) rs143295869 0.00014
NM_198904.4(GABRG2):c.769+18A>G rs2422105 0.00007
NM_198904.4(GABRG2):c.1254C>T (p.Asp418=) rs113085352 0.00006
NM_198904.4(GABRG2):c.259+19C>T rs758196181 0.00004
NM_198904.4(GABRG2):c.632-1212C>T rs587780948 0.00004
NM_198904.4(GABRG2):c.942A>G (p.Thr314=) rs377502016 0.00004
NM_198904.4(GABRG2):c.21G>C (p.Trp7Cys) rs764172866 0.00002
NM_198904.4(GABRG2):c.1014T>C (p.Phe338=) rs1057521488 0.00001
NM_198904.4(GABRG2):c.1128+14T>C rs779125212 0.00001
NM_198904.4(GABRG2):c.1156C>T (p.Pro386Ser) rs757311213 0.00001
NM_198904.4(GABRG2):c.1389G>A (p.Leu463=) rs765904792 0.00001
NM_198904.4(GABRG2):c.333C>T (p.Tyr111=) rs777192588 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.525T>C (p.Asp175=) rs770485021 0.00001
NM_198904.4(GABRG2):c.631+1251G>T rs1047885227 0.00001
NM_198904.4(GABRG2):c.985G>T (p.Val329Phe) rs768061156 0.00001
NM_198904.4(GABRG2):c.99C>T (p.Leu33=) rs368162707 0.00001
GRCh37/hg19 5q34(chr5:161447133-161547033)
NM_198904.4(GABRG2):c.*20A>C rs796052501
NM_198904.4(GABRG2):c.107+6A>G rs868452487
NM_198904.4(GABRG2):c.1152+3_1152+9dup
NM_198904.4(GABRG2):c.15T>C (p.Asn5=) rs1057522820
NM_198904.4(GABRG2):c.327+12A>C rs188717038
NM_198904.4(GABRG2):c.548+14A>G rs1057521821
NM_198904.4(GABRG2):c.574T>C (p.Leu192=) rs1554098050
NM_198904.4(GABRG2):c.631+1209TTGTT[5] rs1247520830
NM_198904.4(GABRG2):c.631+1283G>A rs143065876
NM_198904.4(GABRG2):c.840T>C (p.Tyr280=) rs558779533
NM_198904.4(GABRG2):c.90G>C (p.Leu30=) rs115976622
NM_198904.4(GABRG2):c.915A>G (p.Thr305=) rs1398214382
NM_198904.4(GABRG2):c.967C>T (p.Arg323Trp) rs796052510

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