List of variants in gene GABRA2 reported as likely pathogenic for neurodevelopmental 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: 8

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HGVS	dbSNP	gnomAD frequency
NM_000807.4(GABRA2):c.166C>T (p.Arg56Trp)	rs1308837249
NM_000807.4(GABRA2):c.460C>G (p.Leu154Val)
NM_000807.4(GABRA2):c.644T>C (p.Leu215Ser)
NM_000807.4(GABRA2):c.787A>G (p.Met263Val)
NM_000807.4(GABRA2):c.850G>T (p.Val284Leu)
NM_000807.4(GABRA2):c.862A>G (p.Thr288Ala)
NM_000807.4(GABRA2):c.875C>T (p.Thr292Ile)	rs1577800481
NM_000807.4(GABRA2):c.995C>T (p.Ala332Val)	rs2109351409

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