List of variants in gene GABRB1 reported as uncertain significance for inborn disorder of amino acid metabolism

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_000812.4(GABRB1):c.1142C>T (p.Ser381Leu)	rs539587921	0.00001
NM_000812.4(GABRB1):c.1214G>A (p.Arg405His)	rs999920078	0.00001
NM_000812.4(GABRB1):c.1243G>C (p.Gly415Arg)
NM_000812.4(GABRB1):c.1399G>T (p.Val467Phe)
NM_000812.4(GABRB1):c.158G>T (p.Arg53Leu)
NM_000812.4(GABRB1):c.307C>T (p.Pro103Ser)	rs775749394
NM_000812.4(GABRB1):c.629A>G (p.Gln210Arg)	rs1728466964
NM_000812.4(GABRB1):c.74C>G (p.Ala25Gly)

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