ClinVar Miner

List of variants studied for syndromic intellectual disability by Solve-RD Consortium

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg) rs137852959 0.00024
GRCh37/hg19 Xq12(chrX:67433703-67454430)x2
NM_001079872.2(CUL4B):c.1007_1011del (p.Ile336fs)
NM_001079872.2(CUL4B):c.1396C>T (p.Arg466Ter) rs905353542
NM_001145358.2(SIN3A):c.2955_2956del (p.Glu985fs) rs886037847
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
NM_001190274.2(FBXO11):c.1042-1G>C rs1572806589
NM_001347721.2(DYRK1A):c.1736C>A (p.Thr579Asn) rs724159955
NM_001349338.3(FOXP1):c.1397C>T (p.Pro466Leu)
NM_001356.5(DDX3X):c.1105dup (p.Thr369fs)
NM_001356.5(DDX3X):c.1563dup (p.Ile522fs) rs1602136369
NM_001371928.1(AHDC1):c.1402dup (p.Cys468fs) rs869312858
NM_001376.5(DYNC1H1):c.3185A>G (p.Asp1062Gly)
NM_001376.5(DYNC1H1):c.4462C>T (p.Arg1488Cys)
NM_001429.4(EP300):c.1155_1156del (p.Lys386fs)
NM_001904.4(CTNNB1):c.2273del (p.His758fs) rs1575339920
NM_003491.4(NAA10):c.382T>A (p.Phe128Ile)
NM_004187.5(KDM5C):c.1007_1014dup (p.Leu339fs)
NM_004606.5(TAF1):c.3676C>T (p.Arg1226Trp) rs864321629
NM_005120.3(MED12):c.1547G>A (p.Arg516His) rs1556334969
NM_005120.3(MED12):c.2669T>A (p.Ile890Asn) rs2147796647
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005120.3(MED12):c.6448C>T (p.Gln2150Ter) rs2147844887
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys) rs863225079
NM_006517.5(SLC16A2):c.439G>A (p.Gly147Arg) rs1602140936
NM_007118.4(TRIO):c.4283G>A (p.Arg1428Gln) rs879255626
NM_013275.6(ANKRD11):c.1763C>A (p.Ser588Ter)
NM_013275.6(ANKRD11):c.977del (p.Gly326fs) rs1555529979
NM_014927.5(CNKSR2):c.2134C>T (p.Arg712Ter) rs904072058
NM_015335.5(MED13L):c.3396C>A (p.Cys1132Ter)
NM_015570.4(AUTS2):c.901C>T (p.Gln301Ter) rs1585645641
NM_031407.7(HUWE1):c.9209G>A (p.Arg3070His) rs2061745581

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