ClinVar Miner

List of variants in gene GABBR2 studied for complex neurodevelopmental disorder

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_005458.8(GABBR2):c.375T>G (p.Pro125=) rs2808536 0.77371
NM_005458.8(GABBR2):c.2413-4G>C rs970388 0.19916
NM_005458.8(GABBR2):c.2005-22C>T rs2304390 0.16356
NM_005458.8(GABBR2):c.2052C>T (p.Pro684=) rs2304389 0.16316
NM_005458.8(GABBR2):c.68T>C (p.Leu23Pro) rs933385444 0.00012
NM_005458.8(GABBR2):c.56C>T (p.Pro19Leu) rs1054346747 0.00004
NM_005458.8(GABBR2):c.131G>A (p.Arg44Gln) rs765018232 0.00003
NM_005458.8(GABBR2):c.2412+3A>G rs74429712 0.00001
NM_005458.8(GABBR2):c.*1906T>C rs1588081632
NM_005458.8(GABBR2):c.1065C>G (p.His355Gln)
NM_005458.8(GABBR2):c.121G>T (p.Gly41Cys) rs1588292057
NM_005458.8(GABBR2):c.1662+1G>A rs1832058906
NM_005458.8(GABBR2):c.166C>G (p.Leu56Val) rs1830933309
NM_005458.8(GABBR2):c.1684G>A (p.Val562Met)
NM_005458.8(GABBR2):c.1699G>A (p.Ala567Thr) rs922847767
NM_005458.8(GABBR2):c.2072A>G (p.Tyr691Cys)
NM_005458.8(GABBR2):c.2077G>T (p.Gly693Trp) rs1554689320
NM_005458.8(GABBR2):c.2084G>A (p.Ser695Asn) rs1554689319
NM_005458.8(GABBR2):c.2084G>T (p.Ser695Ile) rs1554689319
NM_005458.8(GABBR2):c.2114T>A (p.Ile705Asn) rs1554689315
NM_005458.8(GABBR2):c.2119G>A (p.Ala707Thr) rs1554689313
NM_005458.8(GABBR2):c.2195G>T (p.Ser732Ile)
NM_005458.8(GABBR2):c.2206C>T (p.Leu736Phe)
NM_005458.8(GABBR2):c.2360G>A (p.Arg787His) rs578253809
NM_005458.8(GABBR2):c.2527T>G (p.Phe843Val)
NM_005458.8(GABBR2):c.2660+2T>G
NM_005458.8(GABBR2):c.2737A>G (p.Ser913Gly) rs1830289381
NM_005458.8(GABBR2):c.2752_2763del (p.914CVSP[1]) rs772966955
NM_005458.8(GABBR2):c.72_73insACCATGGTTCAGCCACATCTGTCACTTGCCAGTATTGGTACGCATTAAAGTAACTGGTCTGAAACGTTCTATCCAAGAACGCTTGAACTTCCAAGTTACTAATGAAGTAATTCAAC (p.Leu25delinsThrMetValGlnProHisLeuSerLeuAlaSerIleGlyThrHisTer)

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