ClinVar Miner

List of variants studied for syndromic intellectual disability by Clinical Genomics Laboratory, Washington University in St. Louis

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000489.6(ATRX):c.1478A>G (p.His493Arg) rs947189709 0.00005
NM_013275.6(ANKRD11):c.7111G>T (p.Ala2371Ser) rs747911603 0.00002
NM_031407.7(HUWE1):c.12860C>T (p.Ser4287Phe) rs143599552 0.00001
NM_031407.7(HUWE1):c.7013G>C (p.Ser2338Thr) rs2062442667 0.00001
NM_001003694.2(BRPF1):c.2545_2566dup (p.Ala856delinsGlyTer)
NM_001003694.2(BRPF1):c.491dup (p.His164fs)
NM_001008537.3(NEXMIF):c.1441C>T (p.Arg481Ter) rs886041701
NM_001039591.3(USP9X):c.7507C>T (p.Pro2503Ser)
NM_001356.5(DDX3X):c.1565T>C (p.Ile522Thr)
NM_001376.5(DYNC1H1):c.8780G>A (p.Arg2927His)
NM_001904.4(CTNNB1):c.1571A>G (p.His524Arg) rs1376864427
NM_001904.4(CTNNB1):c.614C>T (p.Thr205Ile)
NM_003491.4(NAA10):c.259G>T (p.Ala87Ser) rs1557107543
NM_004380.3(CREBBP):c.2111del (p.Pro704fs)
NM_006245.4(PPP2R5D):c.391T>G (p.Phe131Val)
NM_013275.6(ANKRD11):c.6792dup (p.Ala2265fs) rs878855327
NM_013275.6(ANKRD11):c.7606C>T (p.Arg2536Trp) rs2151701893
NM_015100.4(POGZ):c.1215_1216dup (p.Lys406fs)
NM_015100.4(POGZ):c.3118G>A (p.Glu1040Lys) rs2102146729
NM_015335.5(MED13L):c.4183A>G (p.Thr1395Ala)
NM_018026.4(PACS1):c.1199+5G>A
NM_020987.5(ANK3):c.10392del (p.Glu3465fs)
NM_024665.7(TBL1XR1):c.977G>A (p.Ser326Asn)
NM_030665.4(RAI1):c.242G>A (p.Gly81Asp)
NM_031407.7(HUWE1):c.2429A>G (p.Asn810Ser)
NM_031407.7(HUWE1):c.3238C>T (p.Arg1080Cys)

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