ClinVar Miner

List of variants in gene RXYLT1 reported as likely pathogenic 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.1016A>G (p.Tyr339Cys) rs150736997
NM_014254.3(RXYLT1):c.170-1del rs1565898123
NM_014254.3(RXYLT1):c.390G>A (p.Trp130Ter) rs1565899712
NM_014254.3(RXYLT1):c.743+1G>A
NM_014254.3(RXYLT1):c.970C>T (p.Gln324Ter) rs1555228198

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