ClinVar Miner

List of variants in gene RXYLT1 reported as benign for cobblestone lissencephaly

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_014254.3(RXYLT1):c.1226A>G (p.Glu409Gly) rs141536395
NM_014254.3(RXYLT1):c.252C>T (p.Ser84=) rs141095352
NM_014254.3(RXYLT1):c.275C>T (p.Thr92Met) rs73122634
NM_014254.3(RXYLT1):c.294C>T (p.Leu98=) rs114694892
NM_014254.3(RXYLT1):c.469G>A (p.Val157Ile) rs114036100
NM_014254.3(RXYLT1):c.603C>T (p.Leu201=) rs146732392
NM_014254.3(RXYLT1):c.825G>A (p.Thr275=) rs115076664

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