ClinVar Miner

List of variants studied for autosomal dominant non-syndromic intellectual disability by Geisinger Autism and Developmental Medicine Institute, Geisinger Health System

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_004771.4(MMP20):c.1139G>A (p.Arg380Gln) rs767478911 0.00001
NM_002397.5(MEF2C):c.3G>C (p.Met1Ile) rs1554150607
NM_003070.5(SMARCA2):c.1240G>A (p.Ala414Thr) rs1554618664
NM_004859.4(CLTC):c.4388_4389del (p.Val1463fs) rs1567971357
NM_057175.5(NAA15):c.266T>C (p.Leu89Pro) rs1560965164

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