ClinVar Miner

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

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_014254.3(RXYLT1):c.1074A>C (p.Thr358=) rs148356495
NM_014254.3(RXYLT1):c.1170G>A (p.Lys390=) rs145999803
NM_014254.3(RXYLT1):c.1272G>A (p.Glu424=) rs536862073
NM_014254.3(RXYLT1):c.43C>T (p.Leu15=) rs770861350
NM_014254.3(RXYLT1):c.84C>T (p.Phe28=) rs200123669

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