ClinVar Miner

List of variants reported as pathogenic for syndromic intellectual disability by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_003620.4(PPM1D):c.1281G>A (p.Trp427Ter) rs1064797099 0.00001
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs) rs606231193
NM_001079872.2(CUL4B):c.953_957del (p.Ile318fs) rs1085307760
NM_001110556.2(FLNA):c.5293C>T (p.Gln1765Ter)
NM_001110556.2(FLNA):c.6709_6710dup (p.Ala2238fs)
NM_001110792.2(MECP2):c.1191_1236del (p.Leu398fs) rs267608329
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001172509.2(SATB2):c.1225dup (p.Gln409fs)
NM_001172509.2(SATB2):c.54_55insCTCC (p.Gly19fs)
NM_001172509.2(SATB2):c.701-2A>G
NM_001184880.2(PCDH19):c.2675+1G>C
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001282531.3(ADNP):c.2496_2499del (p.Asn832fs) rs587777523
NM_001371928.1(AHDC1):c.1889dup (p.Arg631fs)
NM_001376.5(DYNC1H1):c.2327C>T (p.Pro776Leu) rs1057518083
NM_001376.5(DYNC1H1):c.4700G>A (p.Arg1567Gln) rs797044901
NM_001429.4(EP300):c.4066C>T (p.Arg1356Ter) rs1440862488
NM_001904.4(CTNNB1):c.1041_1044del (p.Val349fs) rs1575320216
NM_004380.3(CREBBP):c.3649C>T (p.Gln1217Ter)
NM_004380.3(CREBBP):c.4509C>G (p.Tyr1503Ter) rs1555473105
NM_004586.3(RPS6KA3):c.1052_1056delinsTGAG (p.Pro351fs)
NM_005120.3(MED12):c.3129del (p.Ser1044fs)
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs) rs797045027
NM_013275.6(ANKRD11):c.2968delinsCA (p.Asp990fs)
NM_013275.6(ANKRD11):c.3309dup (p.Asp1104fs) rs772267579
NM_014795.4(ZEB2):c.2908C>T (p.Gln970Ter) rs1057518185
NM_015100.4(POGZ):c.1180_1181del (p.Met394fs) rs1057518170
NM_015100.4(POGZ):c.529C>T (p.Gln177Ter)
NM_015100.4(POGZ):c.615_616del (p.Phe206fs)
NM_015559.3(SETBP1):c.1873C>T (p.Arg625Ter) rs606231272
NM_015570.4(AUTS2):c.946C>T (p.Arg316Ter) rs1554480537
NM_030665.4(RAI1):c.1810C>T (p.Gln604Ter)
NM_030665.4(RAI1):c.2809_2830delinsCACATGAAG (p.Lys937fs)
NM_139058.3(ARX):c.1058C>T (p.Pro353Leu) rs104894743
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup) rs387906492
NM_152564.5(VPS13B):c.11430del (p.Lys3810fs) rs386834062
NM_152564.5(VPS13B):c.2448_2449dup (p.His817fs)
NM_152564.5(VPS13B):c.3496del (p.Leu1166fs)
NM_152564.5(VPS13B):c.4609_4610del (p.Glu1537fs) rs1554826615
NM_203475.3(PORCN):c.532C>T (p.Gln178Ter)

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