ClinVar Miner

List of variants in gene GABRB2 reported as benign for Intellectual disability

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_001371727.1(GABRB2):c.1308C>T (p.Ala436=) rs2229944 0.11079
NM_001371727.1(GABRB2):c.542-11T>C rs10052441 0.08647
NM_001371727.1(GABRB2):c.438C>G (p.Gly146=) rs2964779 0.00576
NM_001371727.1(GABRB2):c.984C>T (p.Tyr328=) rs140538607 0.00124
NM_001371727.1(GABRB2):c.423C>G (p.Arg141=) rs147449850 0.00098
NM_001371727.1(GABRB2):c.1227C>T (p.Leu409=) rs146425610 0.00046
NM_001371727.1(GABRB2):c.1213T>C (p.Leu405=) rs142424271 0.00018
NM_001371727.1(GABRB2):c.77+18T>C rs200524787 0.00017
NM_001371727.1(GABRB2):c.1159C>T (p.Arg387Trp) rs140795978 0.00014
NM_001371727.1(GABRB2):c.77+16G>T rs778830538 0.00009
NM_001371727.1(GABRB2):c.1191G>A (p.Thr397=) rs373911261 0.00007
NM_001371727.1(GABRB2):c.1061G>A (p.Arg354His) rs371217448 0.00006
NM_001371727.1(GABRB2):c.1190C>T (p.Thr397Met) rs375083192 0.00006
NM_001371727.1(GABRB2):c.542-8T>C rs546965842 0.00006
NM_001371727.1(GABRB2):c.1222A>C (p.Thr408Pro) rs200591388 0.00005
NM_001371727.1(GABRB2):c.1358G>A (p.Arg453Gln) rs371728438 0.00004
NM_001371727.1(GABRB2):c.1118G>A (p.Arg373Gln) rs202183786 0.00003
NM_001371727.1(GABRB2):c.1160G>A (p.Arg387Gln) rs369113102 0.00003
NM_001371727.1(GABRB2):c.73C>A (p.Gln25Lys) rs1001212584 0.00003
NM_001371727.1(GABRB2):c.1510A>G (p.Ile504Val) rs753338867 0.00002
NM_001371727.1(GABRB2):c.1040G>A (p.Ser347Asn) rs1753820203 0.00001
NM_001371727.1(GABRB2):c.1077+6T>C rs993294374 0.00001
NM_001371727.1(GABRB2):c.1144C>T (p.Leu382Phe) rs756481987 0.00001
NM_001371727.1(GABRB2):c.1204G>A (p.Glu402Lys) rs78789939 0.00001
NM_001371727.1(GABRB2):c.1228G>A (p.Glu410Lys) rs148772321 0.00001
NM_001371727.1(GABRB2):c.1280C>T (p.Pro427Leu) rs762381690 0.00001
NM_001371727.1(GABRB2):c.1378G>A (p.Val460Met) rs982764804 0.00001
NM_001371727.1(GABRB2):c.1382C>T (p.Ala461Val) rs952831120 0.00001
NM_001371727.1(GABRB2):c.1430C>T (p.Thr477Ile) rs781122974 0.00001
NM_001371727.1(GABRB2):c.46C>G (p.Pro16Ala) rs775021096 0.00001
NM_001371727.1(GABRB2):c.662A>G (p.Lys221Arg) rs1273884286 0.00001
NM_001371727.1(GABRB2):c.70G>A (p.Ala24Thr) rs1034017582 0.00001
NM_001371727.1(GABRB2):c.9A>T (p.Arg3Ser) rs967225542 0.00001
NM_001371727.1(GABRB2):c.1088A>G (p.Lys363Arg) rs1561608651
NM_001371727.1(GABRB2):c.1094T>G (p.Ile365Ser) rs1758366511
NM_001371727.1(GABRB2):c.1168A>C (p.Asn390His) rs1026621473
NM_001371727.1(GABRB2):c.1178T>C (p.Phe393Ser) rs2113389282
NM_001371727.1(GABRB2):c.1192-3C>T rs773974056
NM_001371727.1(GABRB2):c.1386A>T (p.Gln462His) rs2113333435
NM_001371727.1(GABRB2):c.1501T>A (p.Phe501Ile) rs2113333244
NM_001371727.1(GABRB2):c.169+5T>C rs2480169386
NM_001371727.1(GABRB2):c.190A>G (p.Met64Val) rs2113486772
NM_001371727.1(GABRB2):c.238-14del rs539366743
NM_001371727.1(GABRB2):c.238-14dup rs539366743
NM_001371727.1(GABRB2):c.458+3C>T rs2113263600
NM_001371727.1(GABRB2):c.459A>G (p.Arg153=) rs2113114646
NM_001371727.1(GABRB2):c.51A>C (p.Leu17Phe) rs2480170314
NM_001371727.1(GABRB2):c.542-32GT[7] rs141330383
NM_001371727.1(GABRB2):c.680-3T>C rs763357499
NM_001371727.1(GABRB2):c.77+6T>A rs1760991511
NM_001371727.1(GABRB2):c.833-4del rs777633076
NM_001371727.1(GABRB2):c.833-4dup rs777633076

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