ClinVar Miner

List of variants in gene GABRB2 reported as uncertain significance by GeneDx

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001371727.1(GABRB2):c.1009C>T (p.Arg337Cys) rs777778428 0.00004
NM_001371727.1(GABRB2):c.1202A>G (p.His401Arg) rs1435021718 0.00002
NM_001371727.1(GABRB2):c.1043C>A (p.Ala348Asp) rs750967511 0.00001
NM_001371727.1(GABRB2):c.1382C>T (p.Ala461Val) rs952831120 0.00001
NM_001371727.1(GABRB2):c.1385A>C (p.Gln462Pro) rs761252178 0.00001
NM_001371727.1(GABRB2):c.58G>A (p.Ala20Thr) rs75921414 0.00001
NM_001371727.1(GABRB2):c.662A>G (p.Lys221Arg) rs1273884286 0.00001
NM_001371727.1(GABRB2):c.121G>A (p.Asp41Asn) rs2113490159
NM_001371727.1(GABRB2):c.1274G>C (p.Gly425Ala) rs2113333823
NM_001371727.1(GABRB2):c.1352T>G (p.Phe451Cys) rs1131691366
NM_001371727.1(GABRB2):c.1372C>T (p.Arg458Ter) rs1757317867
NM_001371727.1(GABRB2):c.1465C>T (p.Arg489Trp)
NM_001371727.1(GABRB2):c.166G>C (p.Gly56Arg) rs1131691519
NM_001371727.1(GABRB2):c.169G>A (p.Gly57Ser) rs2113490082
NM_001371727.1(GABRB2):c.172C>T (p.Pro58Ser) rs769551029
NM_001371727.1(GABRB2):c.217A>C (p.Met73Leu)
NM_001371727.1(GABRB2):c.327C>G (p.Asn109Lys)
NM_001371727.1(GABRB2):c.348G>C (p.Trp116Cys)
NM_001371727.1(GABRB2):c.422G>A (p.Arg141His) rs1554102156
NM_001371727.1(GABRB2):c.428A>G (p.His143Arg) rs2113263743
NM_001371727.1(GABRB2):c.442G>A (p.Val148Ile) rs1581004188
NM_001371727.1(GABRB2):c.456C>T (p.Leu152=) rs2113263624
NM_001371727.1(GABRB2):c.485T>G (p.Met162Arg) rs1085307602
NM_001371727.1(GABRB2):c.68G>A (p.Cys23Tyr)
NM_001371727.1(GABRB2):c.720A>C (p.Arg240Ser)
NM_001371727.1(GABRB2):c.727G>A (p.Gly243Ser)
NM_001371727.1(GABRB2):c.814G>A (p.Ala272Thr) rs2113404944
NM_001371727.1(GABRB2):c.833-2A>G
NM_001371727.1(GABRB2):c.968A>T (p.Tyr323Phe) rs2113397668
NM_001371727.1(GABRB2):c.992T>C (p.Phe331Ser) rs2113397611

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