ClinVar Miner

List of variants studied for autosomal dominant non-syndromic intellectual disability by Breda Genetics srl

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_001386298.1(CIC):c.6190G>A (p.Ala2064Thr) rs148703020 0.00003
NM_001348323.3(TRIP12):c.4838+2T>G rs2040714903
NM_004068.4(AP2M1):c.911A>C (p.Lys304Thr) rs2109031749
NM_006734.4(HIVEP2):c.1418A>T (p.Asp473Val) rs2114660781
NM_152641.4(ARID2):c.2230G>A (p.Val744Ile) rs541063414

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