ClinVar Miner

List of variants reported as likely pathogenic for autosomal dominant non-syndromic intellectual disability by Invitae

Included ClinVar conditions (49):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_002397.5(MEF2C):c.170A>G (p.Tyr57Cys) rs2153074319
NM_002397.5(MEF2C):c.258+1G>A rs1064797310
NM_002397.5(MEF2C):c.43C>T (p.Arg15Cys) rs796052728
NM_002397.5(MEF2C):c.637+1G>C rs2152497250
NM_002397.5(MEF2C):c.637+1G>T
NM_002397.5(MEF2C):c.638-1G>A rs2152281284
NM_002397.5(MEF2C):c.71G>A (p.Arg24Lys) rs869312698
NM_002397.5(MEF2C):c.79G>A (p.Gly27Arg)
NM_002397.5(MEF2C):c.810+2T>C

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