List of variants in gene GABRB3 reported as uncertain significance for brain disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_000814.6(GABRB3):c.650G>A (p.Arg217His)	rs121913125	0.00004
NM_000814.6(GABRB3):c.1265C>T (p.Pro422Leu)	rs369631109	0.00003
NM_000814.6(GABRB3):c.292G>A (p.Ala98Thr)	rs756369937	0.00003
NM_000814.6(GABRB3):c.557C>T (p.Thr186Met)	rs769801846	0.00003
NM_000814.6(GABRB3):c.1033A>G (p.Lys345Glu)	rs1224993536	0.00002
NM_000814.6(GABRB3):c.1052A>G (p.Asn351Ser)	rs763319754
NM_000814.6(GABRB3):c.1280A>G (p.His427Arg)
NM_000814.6(GABRB3):c.1340C>T (p.Ala447Val)
NM_000814.6(GABRB3):c.151C>G (p.Arg51Gly)	rs2140199581
NM_000814.6(GABRB3):c.240+8206_240+8254del
NM_000814.6(GABRB3):c.343C>T (p.Gln115Ter)	rs1892478912
NM_000814.6(GABRB3):c.424C>T (p.Arg142Cys)	rs1892475061
NM_000814.6(GABRB3):c.437A>C (p.Asp146Ala)
NM_000814.6(GABRB3):c.461+15T>G	rs1892473260
NM_000814.6(GABRB3):c.581G>A (p.Arg194Gln)	rs369581041
NM_000814.6(GABRB3):c.589G>T (p.Asp197Tyr)
NM_000814.6(GABRB3):c.666TGT[1] (p.Val224del)	rs2140730286
NM_000814.6(GABRB3):c.679A>C (p.Thr227Pro)	rs1890741727
NM_000814.6(GABRB3):c.694C>T (p.Arg232Ter)	rs1595445975
NM_000814.6(GABRB3):c.791C>T (p.Ser264Phe)	rs2140696672
NM_000814.6(GABRB3):c.841A>G (p.Thr281Ala)	rs1555401442
NM_000814.6(GABRB3):c.883G>T (p.Glu295Ter)	rs990827657
NM_000814.6(GABRB3):c.8del (p.Gly3fs)	rs1891196700

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