ClinVar Miner

List of variants in gene RXYLT1 reported by PreventionGenetics, part of Exact Sciences

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_014254.3(RXYLT1):c.*18C>G rs1876465 0.14533
NM_014254.3(RXYLT1):c.67G>A (p.Ala23Thr) rs61935924 0.07537
NM_014254.3(RXYLT1):c.*19_*20del rs138552613 0.05484
NM_014254.3(RXYLT1):c.469G>A (p.Val157Ile) rs114036100 0.01144
NM_014254.3(RXYLT1):c.1226A>G (p.Glu409Gly) rs141536395 0.00659
NM_014254.3(RXYLT1):c.275C>T (p.Thr92Met) rs73122634 0.00441
NM_014254.3(RXYLT1):c.252C>T (p.Ser84=) rs141095352 0.00141
NM_014254.3(RXYLT1):c.1272G>A (p.Glu424=) rs536862073 0.00011
NM_014254.3(RXYLT1):c.84C>T (p.Phe28=) rs200123669 0.00011
NM_014254.3(RXYLT1):c.882C>T (p.Asn294=) rs148182310 0.00009
NM_014254.3(RXYLT1):c.15G>A (p.Arg5=) rs747769300 0.00006
NM_014254.3(RXYLT1):c.250A>G (p.Ser84Gly) rs745327804 0.00001

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