ClinVar Miner

List of variants reported as pathogenic for syndromic intellectual disability by Duke University Health System Sequencing Clinic, Duke University Health System

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_015338.6(ASXL1):c.1210C>T (p.Arg404Ter) rs373145711 0.00003
NM_001347721.2(DYRK1A):c.1943_1960delinsTC (p.Ser648fs)
NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter) rs724159949
NM_001376.5(DYNC1H1):c.6994C>T (p.Arg2332Cys) rs1057518961
NM_001904.4(CTNNB1):c.1351dup (p.Val451fs)
NM_004187.5(KDM5C):c.2908C>T (p.Gln970Ter) rs2146837810
NM_004586.3(RPS6KA3):c.2101-2A>G
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005120.3(MED12):c.3883C>T (p.Arg1295Cys) rs863223706
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_006517.5(SLC16A2):c.154C>T (p.Gln52Ter) rs1569281085
NM_006766.5(KAT6A):c.3385C>T (p.Arg1129Ter) rs786200960
NM_013275.6(ANKRD11):c.2090_2091del (p.Glu697fs)
NM_015338.6(ASXL1):c.1368_1371del (p.Asp457fs)
NM_015559.3(SETBP1):c.2612T>G (p.Ile871Ser) rs267607038
NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1]) rs1789934246
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_031407.7(HUWE1):c.328C>T (p.Arg110Trp) rs1057520538
NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys) rs886041876

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