List of variants in gene GABRB1 reported as likely pathogenic for Developmental and epileptic encephalopathy, 45

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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: 5

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HGVS	dbSNP	gnomAD frequency
NM_000812.4(GABRB1):c.157C>T (p.Arg53Trp)	rs1135401786
NM_000812.4(GABRB1):c.757C>T (p.Pro253Ser)	rs2110051822
NM_000812.4(GABRB1):c.854C>A (p.Thr285Lys)	rs1728584859
NM_000812.4(GABRB1):c.860C>T (p.Thr287Ile)	rs886039818
NM_000812.4(GABRB1):c.898A>T (p.Ile300Phe)	rs2475468418

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