ClinVar Miner

List of variants in gene GABRB3 reported as likely pathogenic by GeneDx

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000814.6(GABRB3):c.239T>C (p.Met80Thr) rs1064794797
NM_000814.6(GABRB3):c.400G>A (p.Val134Met) rs2140536891
NM_000814.6(GABRB3):c.485T>C (p.Met162Thr) rs1555368636
NM_000814.6(GABRB3):c.509T>G (p.Leu170Arg) rs1555368626
NM_000814.6(GABRB3):c.554C>T (p.Thr185Ile) rs1131691481
NM_000814.6(GABRB3):c.758C>T (p.Pro253Leu)
NM_000814.6(GABRB3):c.771A>G (p.Ile257Met) rs2140696739
NM_000814.6(GABRB3):c.838A>T (p.Ile280Phe) rs1057518036
NM_000814.6(GABRB3):c.881G>C (p.Arg294Pro) rs1085308023
NM_000814.6(GABRB3):c.914C>A (p.Ala305Asp) rs1555401425

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