ClinVar Miner

List of variants in gene SLC16A2 reported as likely pathogenic for X-linked syndromic intellectual disability

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_006517.4(SLC16A2):c.1111C>T (p.Arg371Cys) rs587784384
NM_006517.4(SLC16A2):c.1390C>T (p.Pro464Ser) rs1363308293
NM_006517.4(SLC16A2):c.449C>A (p.Ala150Glu) rs104894936
NM_006517.4(SLC16A2):c.461_463delTCT (p.Phe156del) rs387906501
NM_006517.4(SLC16A2):c.979G>A (p.Gly327Arg) rs587784383

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