List of variants in gene GABRB3 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000814.6(GABRB3):c.544+3G>T	rs377463653	0.00003
NM_000814.6(GABRB3):c.-2G>A	rs1891197060
NM_000814.6(GABRB3):c.1080+6C>T	rs2140679717
NM_000814.6(GABRB3):c.1167G>T (p.Arg389Ser)	rs1889323307
NM_000814.6(GABRB3):c.1307A>C (p.Lys436Thr)	rs2140645254
NM_000814.6(GABRB3):c.169G>C (p.Gly57Arg)	rs1891185775
NM_000814.6(GABRB3):c.241-7464G>A
NM_000814.6(GABRB3):c.346C>G (p.Leu116Val)	rs1555371873
NM_000814.6(GABRB3):c.380A>G (p.Lys127Arg)	rs1057519201
NM_000814.6(GABRB3):c.440G>A (p.Gly147Glu)
NM_000814.6(GABRB3):c.566T>C (p.Ile189Thr)
NM_000814.6(GABRB3):c.630_631delinsCG (p.Gln210_Phe211delinsHisVal)	rs2140730417
NM_000814.6(GABRB3):c.862A>G (p.Thr288Ala)	rs1595440443
NM_000814.6(GABRB3):c.898A>C (p.Ile300Leu)	rs1567106362
NM_000814.6(GABRB3):c.916A>G (p.Ile306Val)	rs1889965563
NM_021912.5(GABRB3):c.19G>A (p.Glu7Lys)	rs2140201211
NM_021912.5(GABRB3):c.68C>T (p.Ser23Phe)

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