ClinVar Miner

List of variants in gene GABRB1 reported as uncertain significance for complex neurodevelopmental disorder

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000812.4(GABRB1):c.1142C>T (p.Ser381Leu) rs539587921 0.00001
NM_000812.4(GABRB1):c.1243G>C (p.Gly415Arg)
NM_000812.4(GABRB1):c.307C>T (p.Pro103Ser) rs775749394
NM_000812.4(GABRB1):c.629A>G (p.Gln210Arg) rs1728466964
NM_000812.4(GABRB1):c.74C>G (p.Ala25Gly)

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