ClinVar Miner

List of variants studied for syndromic intellectual disability by Cavalleri Lab, Royal College of Surgeons in Ireland

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001376.5(DYNC1H1):c.874C>T (p.Arg292Trp) rs2047850664
NM_002547.3(OPHN1):c.1343C>T (p.Ser448Phe) rs2077140176
NM_007363.5(NONO):c.1191_1192del (p.Asn397fs) rs2031508845
NM_013275.6(ANKRD11):c.7571A>G (p.Glu2524Gly) rs2033513257

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