ClinVar Miner

List of variants reported as uncertain significance for syndromic intellectual disability by Clinical Genetics Laboratory, University Hospital Schleswig-Holstein

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001429.4(EP300):c.2241G>A (p.Pro747=) rs759604286 0.00003
NM_000489.6(ATRX):c.2101C>T (p.Arg701Cys)
NM_000489.6(ATRX):c.2134A>G (p.Lys712Glu) rs2071344958
NM_001003694.2(BRPF1):c.1240G>C (p.Ala414Pro)
NM_001145358.2(SIN3A):c.2063C>T (p.Pro688Leu) rs2141438345
NM_001282531.3(ADNP):c.2353G>A (p.Glu785Lys)
NM_001376.5(DYNC1H1):c.483T>A (p.Phe161Leu)
NM_001830.4(CLCN4):c.1367C>T (p.Thr456Ile)
NM_003070.5(SMARCA2):c.1333C>T (p.Arg445Cys) rs1383968848
NM_006245.4(PPP2R5D):c.1418T>G (p.Phe473Cys) rs2150283078
NM_006766.5(KAT6A):c.4625C>T (p.Ser1542Phe)
NM_007118.4(TRIO):c.8159G>A (p.Gly2720Asp)
NM_013275.6(ANKRD11):c.6425C>T (p.Pro2142Leu)
NM_020699.4(GATAD2B):c.1390G>A (p.Ala464Thr)

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