ClinVar Miner

List of variants studied for syndromic intellectual disability by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_001184880.2(PCDH19):c.1627C>T (p.Leu543=) rs1953337 0.19198
NM_007325.5(GRIA3):c.1501-8T>A rs139058646 0.00969
NM_001830.4(CLCN4):c.1390-4C>T rs141271427 0.00900
NM_001015877.2(PHF6):c.927C>T (p.Asp309=) rs112199174 0.00809
NM_001184880.2(PCDH19):c.2469G>A (p.Leu823=) rs61744561 0.00798
NM_001008537.3(NEXMIF):c.151C>A (p.Pro51Thr) rs145018752 0.00705
NM_001015877.2(PHF6):c.729+4A>G rs188961105 0.00691
NM_013275.6(ANKRD11):c.6106G>A (p.Asp2036Asn) rs201636725 0.00654
NM_013275.6(ANKRD11):c.5338G>A (p.Ala1780Thr) rs75362060 0.00424
NM_002547.3(OPHN1):c.902C>T (p.Thr301Met) rs138108344 0.00403
NM_014927.5(CNKSR2):c.1497G>A (p.Lys499=) rs144866575 0.00393
NM_018026.4(PACS1):c.534+13T>C rs138009664 0.00375
NM_013275.6(ANKRD11):c.3483C>T (p.Ser1161=) rs150642594 0.00365
NM_001015877.2(PHF6):c.374+8T>C rs142596708 0.00360
NM_004187.5(KDM5C):c.1236C>T (p.Pro412=) rs147546892 0.00291
NM_014795.4(ZEB2):c.489C>T (p.Ile163=) rs138859323 0.00277
NM_001184880.2(PCDH19):c.1683G>A (p.Pro561=) rs192354176 0.00272
NM_013275.6(ANKRD11):c.7296C>T (p.Ser2432=) rs146648782 0.00233
NM_014927.5(CNKSR2):c.2926C>T (p.Leu976=) rs145113843 0.00221
NM_001347721.2(DYRK1A):c.1039A>G (p.Thr347Ala) rs145857775 0.00186
NM_013275.6(ANKRD11):c.5661A>G (p.Gln1887=) rs147726863 0.00185
NM_001184880.2(PCDH19):c.3280C>G (p.Leu1094Val) rs184545774 0.00151
NM_013275.6(ANKRD11):c.5088C>G (p.Asp1696Glu) rs146205997 0.00150
NM_001347721.2(DYRK1A):c.925-19A>G rs78428152 0.00136
NM_002547.3(OPHN1):c.832+16G>A rs199794620 0.00121
NM_013275.6(ANKRD11):c.6745C>T (p.Arg2249Cys) rs202081612 0.00121
NM_001079872.2(CUL4B):c.1857C>T (p.Cys619=) rs148700620 0.00099
NM_013275.6(ANKRD11):c.4440T>C (p.His1480=) rs139429949 0.00099
NM_014795.4(ZEB2):c.1161A>G (p.Leu387=) rs146673563 0.00084
NM_020987.5(ANK3):c.7928A>G (p.Asn2643Ser) rs139972937 0.00038
NM_013275.6(ANKRD11):c.1133A>G (p.Asn378Ser) rs202203523 0.00034
NM_001830.4(CLCN4):c.264C>T (p.Ile88=) rs749839151 0.00019
NM_031206.7(LAS1L):c.1341A>G (p.Ala447=) rs766767923 0.00007
NM_001008537.3(NEXMIF):c.3826C>G (p.Gln1276Glu) rs754763619 0.00003
NM_001830.4(CLCN4):c.1319C>T (p.Thr440Met) rs376745468 0.00003
NM_014795.4(ZEB2):c.807+8G>A rs367991951 0.00003
NM_015570.4(AUTS2):c.1264A>G (p.Ile422Val) rs376584055 0.00003
NM_031407.7(HUWE1):c.3896G>A (p.Arg1299Gln) rs781793405 0.00001
NM_001079872.2(CUL4B):c.847-10del rs762094686
NM_001376.5(DYNC1H1):c.1826T>C (p.Ile609Thr) rs2047933165
NM_001830.4(CLCN4):c.555+22dup rs755091054
NM_002547.3(OPHN1):c.705A>C (p.Thr235=)
NM_004187.5(KDM5C):c.2517-15T>A
NM_004187.5(KDM5C):c.4011_4014del (p.Glu1338fs)
NM_006245.4(PPP2R5D):c.619T>C (p.Trp207Arg) rs869320691
NM_006565.4(CTCF):c.1235G>A (p.Cys412Tyr)
NM_006565.4(CTCF):c.1365C>G (p.His455Gln) rs1597725291
NM_006766.5(KAT6A):c.824C>T (p.Ala275Val) rs1220943324
NM_007325.5(GRIA3):c.1501-13dup rs1556317771
NM_007325.5(GRIA3):c.268+16762dup rs11452643
NM_013275.6(ANKRD11):c.2258C>T (p.Pro753Leu)
NM_013275.6(ANKRD11):c.3927G>A (p.Thr1309=) rs143428884
NM_013275.6(ANKRD11):c.4250A>C (p.Asp1417Ala)
NM_013275.6(ANKRD11):c.5366G>A (p.Arg1789His)
NM_013275.6(ANKRD11):c.6695G>C (p.Arg2232Pro)
NM_014795.4(ZEB2):c.150C>A (p.Asp50Glu)
NM_014927.5(CNKSR2):c.1657+20C>T
NM_015100.4(POGZ):c.2590C>T (p.Arg864Ter) rs756659230
NM_015335.5(MED13L):c.338G>T (p.Gly113Val)
NM_015335.5(MED13L):c.829C>G (p.Arg277Gly)
NM_016023.5(OTUD6B):c.313C>T (p.Arg105Trp)
NM_016023.5(OTUD6B):c.550G>A (p.Ala184Thr) rs771021419
NM_018026.4(PACS1):c.444+10G>C
NM_019597.5(HNRNPH2):c.617G>A (p.Arg206Gln) rs886039764
NM_030665.4(RAI1):c.2404_2406del (p.Lys802del) rs779691871
NM_031206.7(LAS1L):c.2051G>A (p.Arg684Gln) rs900809839
NM_031407.7(HUWE1):c.10204C>T (p.Arg3402Trp)
NM_031407.7(HUWE1):c.10973G>A (p.Cys3658Tyr)

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