ClinVar Miner

List of variants in gene GABRB3 reported as likely pathogenic for complex neurodevelopmental disorder

Included ClinVar conditions (295):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000814.6(GABRB3):c.154C>G (p.Leu52Val)
NM_000814.6(GABRB3):c.173-2A>T rs1891176092
NM_000814.6(GABRB3):c.239T>G (p.Met80Arg) rs1064794797
NM_000814.6(GABRB3):c.493C>T (p.Leu165Phe)
NM_000814.6(GABRB3):c.496A>G (p.Arg166Gly) rs1890857965
NM_000814.6(GABRB3):c.630G>C (p.Gln210His) rs1890744574
NM_000814.6(GABRB3):c.733T>C (p.Tyr245His) rs1890229646
NM_000814.6(GABRB3):c.758C>T (p.Pro253Leu)
NM_000814.6(GABRB3):c.767T>A (p.Leu256Gln) rs1890228169
NM_000814.6(GABRB3):c.778C>G (p.Leu260Val) rs2140696722
NM_000814.6(GABRB3):c.841A>G (p.Thr281Ala) rs1555401442
NM_000814.6(GABRB3):c.911A>G (p.Lys304Arg) rs1889966043
NM_000814.6(GABRB3):c.914C>T (p.Ala305Val) rs1555401425

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