ClinVar Miner

List of variants reported as likely pathogenic for autosomal recessive non-syndromic intellectual disability by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Included ClinVar conditions (71):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_015275.3(WASHC4):c.1508A>G (p.His503Arg) rs201428088 0.00029
NM_015275.3(WASHC4):c.3236A>G (p.Lys1079Arg) rs748436953 0.00006
NM_001160372.4(TRAPPC9):c.1414C>T (p.Arg472Ter) rs267607137 0.00003
NM_001040616.3(LINS1):c.557_558del (p.Lys186fs) rs747412555
NM_001040616.3(LINS1):c.597del (p.Glu200fs) rs1198074890
NM_004830.4(MED23):c.2368_2371del (p.Leu790fs) rs760262127
NM_014026.6(DCPS):c.201+1G>T

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