ClinVar Miner

List of variants in gene RXYLT1 reported by Athena Diagnostics Inc

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Gene type:
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_014254.3(RXYLT1):c.469G>A (p.Val157Ile) rs114036100 0.01144
NM_014254.3(RXYLT1):c.825G>A (p.Thr275=) rs115076664 0.00264
NM_014254.3(RXYLT1):c.603C>T (p.Leu201=) rs146732392 0.00076
NM_014254.3(RXYLT1):c.77A>G (p.His26Arg) rs1019967024 0.00003
NM_014254.3(RXYLT1):c.1147TTTATC[1] (p.383FI[1]) rs767728184

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