ClinVar Miner

List of variants studied for autosomal dominant non-syndromic intellectual disability by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Included ClinVar conditions (49):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001220.5(CAMK2B):c.760A>T (p.Thr254Ser)
NM_001348323.3(TRIP12):c.1160G>A (p.Arg387Lys) rs2054983988
NM_001386298.1(CIC):c.3163_3164del (p.Glu1054_Ser1055insTer) rs1599892470
NM_002397.5(MEF2C):c.402+1G>A
NM_003011.4(SET):c.130_133del (p.Arg44fs) rs1554776342
NM_004068.4(AP2M1):c.538A>T (p.Ser180Cys)
NM_005121.3(MED13):c.5168G>A (p.Arg1723Gln)
NM_006734.4(HIVEP2):c.3050C>G (p.Ser1017Cys) rs1334253551
NM_006734.4(HIVEP2):c.3490C>T (p.Gln1164Ter)
NM_019842.4(KCNQ5):c.7C>A (p.Arg3Ser) rs549110435
NM_130797.4(DPP6):c.244-1G>A rs2151289543

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