ClinVar Miner

List of variants in gene RXYLT1 studied for congenital muscular dystrophy

Included ClinVar conditions (105):
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Gene type:
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_014254.3(RXYLT1):c.*18C>G rs1876465 0.14533
NM_014254.3(RXYLT1):c.1226A>G (p.Glu409Gly) rs141536395 0.00659
NM_014254.3(RXYLT1):c.237C>G (p.His79Gln) rs200620643 0.00017
NM_014254.3(RXYLT1):c.17A>G (p.Lys6Arg) rs145516652 0.00012
NM_014254.3(RXYLT1):c.1016A>G (p.Tyr339Cys) rs150736997 0.00002
NM_014254.3(RXYLT1):c.1018C>T (p.Arg340Ter) rs397514695 0.00001
NM_014254.3(RXYLT1):c.1064_1091del (p.Asp355fs) rs397514545 0.00001
NM_014254.3(RXYLT1):c.1332A>C (p.Ter444Tyr) rs922693472 0.00001
NM_014254.3(RXYLT1):c.325+1G>T rs1592838547 0.00001
NM_014254.3(RXYLT1):c.429-2A>G rs199605239 0.00001
NM_014254.3(RXYLT1):c.795del (p.Arg266fs) rs397514543 0.00001
NM_014254.3(RXYLT1):c.914+6T>G rs748809209 0.00001
NC_000012.11:g.(?_64198994)_(64199204_?)dup
NM_014254.3(RXYLT1):c.1019_1020delinsTT (p.Arg340Leu) rs397514544
NM_014254.3(RXYLT1):c.1024del (p.Tyr342fs)
NM_014254.3(RXYLT1):c.139del (p.Ala47fs) rs397514696
NM_014254.3(RXYLT1):c.169+2T>C
NM_014254.3(RXYLT1):c.233A>G (p.Gln78Arg)
NM_014254.3(RXYLT1):c.279del (p.Gly94fs) rs397514546
NM_014254.3(RXYLT1):c.390G>A (p.Trp130Ter) rs1565899712
NM_014254.3(RXYLT1):c.539G>T (p.Trp180Leu)
NM_014254.3(RXYLT1):c.920A>G (p.Gln307Arg) rs866198592
NM_014254.3(RXYLT1):c.92G>T (p.Arg31Leu) rs1897636551
NM_014254.3(RXYLT1):c.992C>T (p.Pro331Leu)

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