ClinVar Miner

List of variants studied for X-linked intellectual disability, Cantagrel type by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Total variants: 8
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HGVS dbSNP
NEXMIF, 70-KB DUP
NM_001008537.3(NEXMIF):c.1441C>T (p.Arg481Ter) rs886041701
NM_001008537.3(NEXMIF):c.1582del (p.Arg528fs) rs727503977
NM_001008537.3(NEXMIF):c.183del (p.Arg62fs) rs397518479
NM_001008537.3(NEXMIF):c.2042del (p.Gly681fs) rs1556016555
NM_001008537.3(NEXMIF):c.3597dup (p.Ser1200fs) rs397518478
NM_001008537.3(NEXMIF):c.438C>A (p.Cys146Ter) rs1556016802
NM_001008537.3(NEXMIF):c.964C>T (p.Arg322Ter) rs1556016731

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