ClinVar Miner

List of variants in gene GABRB3 studied for Inborn genetic diseases

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_021912.5(GABRB3):c.75C>T (p.Pro25=) rs20318 0.14900
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser) rs25409 0.00354
NM_000814.6(GABRB3):c.1293G>A (p.Arg431=) rs75914945 0.00044
NM_000814.6(GABRB3):c.19G>A (p.Gly7Arg) rs759931649 0.00022
NM_000814.6(GABRB3):c.1058G>A (p.Arg353His) rs200057173 0.00018
NM_021912.5(GABRB3):c.44C>T (p.Ser15Phe) rs121913126 0.00016
NM_000814.6(GABRB3):c.585C>T (p.Gly195=) rs781294125 0.00015
NM_000814.6(GABRB3):c.627G>A (p.Pro209=) rs146431931 0.00006
NM_000814.6(GABRB3):c.589G>A (p.Asp197Asn) rs375461837 0.00005
NM_000814.6(GABRB3):c.1204T>C (p.Tyr402His) rs185383468 0.00004
NM_000814.6(GABRB3):c.1265C>T (p.Pro422Leu) rs369631109 0.00003
NM_000814.6(GABRB3):c.156A>T (p.Leu52=) rs368193507 0.00003
NM_000814.6(GABRB3):c.80+4G>C rs542737772 0.00002
NM_000814.6(GABRB3):c.1127A>G (p.Asn376Ser) rs756866953 0.00001
NM_000814.6(GABRB3):c.329A>G (p.Asn110Ser) rs751329477 0.00001
NM_000814.6(GABRB3):c.348A>G (p.Leu116=) rs758378648 0.00001
NM_000814.6(GABRB3):c.405A>G (p.Thr135=) rs368117521 0.00001
NM_000814.6(GABRB3):c.434C>G (p.Pro145Arg) rs1325124119 0.00001
NM_000814.6(GABRB3):c.640G>A (p.Val214Met) rs761554616 0.00001
NM_000814.6(GABRB3):c.1097A>G (p.Asn366Ser) rs759847671
NM_000814.6(GABRB3):c.1138G>A (p.Glu380Lys)
NM_000814.6(GABRB3):c.1247T>C (p.Leu416Pro) rs1555400362
NM_000814.6(GABRB3):c.175C>T (p.Pro59Ser) rs1555383878
NM_000814.6(GABRB3):c.229G>T (p.Glu77Ter)
NM_000814.6(GABRB3):c.328A>G (p.Asn110Asp)
NM_000814.6(GABRB3):c.47C>A (p.Pro16Gln)
NM_000814.6(GABRB3):c.487A>G (p.Met163Val) rs1060502666
NM_000814.6(GABRB3):c.59C>T (p.Ala20Val) rs2140199975
NM_000814.6(GABRB3):c.61G>A (p.Val21Met)
NM_000814.6(GABRB3):c.757C>A (p.Pro253Thr) rs1890229008
NM_000814.6(GABRB3):c.81-5C>G rs201579427
NM_000814.6(GABRB3):c.844A>G (p.Thr282Ala)
NM_000814.6(GABRB3):c.863C>T (p.Thr288Ile) rs1555401440
NM_000814.6(GABRB3):c.948T>C (p.Phe316=)
NM_021912.5(GABRB3):c.13C>G (p.Leu5Val)
NM_021912.5(GABRB3):c.13C>T (p.Leu5Phe)
NM_021912.5(GABRB3):c.19_27del (p.Glu7_Leu9del)
NM_021912.5(GABRB3):c.2T>C (p.Met1Thr) rs1595364724

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