List of variants in gene GABRA2 studied for complex neurodevelopmental disorder

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000807.4(GABRA2):c.29T>C (p.Met10Thr)	rs200327122	0.00014
NM_000807.4(GABRA2):c.764T>C (p.Ile255Thr)	rs767460850	0.00001
NM_000807.4(GABRA2):c.1003A>C (p.Asn335His)	rs1560442716
NM_000807.4(GABRA2):c.1118A>G (p.Asn373Ser)
NM_000807.4(GABRA2):c.1174A>G (p.Thr392Ala)
NM_000807.4(GABRA2):c.438del (p.Arg147fs)	rs1727826275
NM_000807.4(GABRA2):c.76G>T (p.Val26Leu)	rs769353682
NM_000807.4(GABRA2):c.788T>C (p.Met263Thr)	rs1577975808
NM_000807.4(GABRA2):c.855del (p.Phe285fs)	rs2109626303
NM_000807.4(GABRA2):c.862A>G (p.Thr288Ala)
NM_000807.4(GABRA2):c.871C>G (p.Leu291Val)	rs1281490675
NM_000807.4(GABRA2):c.875C>A (p.Thr292Lys)	rs1577800481
NM_000807.4(GABRA2):c.875C>T (p.Thr292Ile)	rs1577800481
NM_000807.4(GABRA2):c.881C>T (p.Thr294Ile)
NM_000807.4(GABRA2):c.975C>A (p.Phe325Leu)	rs1243977956
NM_000807.4(GABRA2):c.995C>T (p.Ala332Val)	rs2109351409

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