ClinVar Miner

List of variants studied for syndromic intellectual disability by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 144
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HGVS dbSNP gnomAD frequency
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter) rs150259543 0.00073
NM_001127178.3(PIGG):c.2552A>C (p.Gln851Pro) rs150802299 0.00014
NM_152564.5(VPS13B):c.6657+1G>A rs180177366 0.00010
NM_019023.5(PRMT7):c.1056-1G>T rs201824659 0.00008
NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter) rs144539572 0.00008
NM_003620.4(PPM1D):c.1654C>T (p.Arg552Ter) rs779070661 0.00004
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter) rs120074151 0.00004
NM_015338.6(ASXL1):c.2077C>T (p.Arg693Ter) rs373221034 0.00002
NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter) rs386834061 0.00002
NM_152564.5(VPS13B):c.1504C>T (p.Arg502Ter) rs180177354 0.00002
NM_152564.5(VPS13B):c.2889G>A (p.Trp963Ter) rs386834078 0.00002
NM_152564.5(VPS13B):c.5259dup (p.Gly1754fs) rs786204533 0.00002
NM_152564.5(VPS13B):c.5845C>T (p.Arg1949Ter) rs180177365 0.00002
NM_152564.5(VPS13B):c.8440C>T (p.Arg2814Ter) rs386834113 0.00002
NM_017890.5(VPS13B):c.4238T>A (p.Leu1413Ter) rs765998879 0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) rs386834055 0.00001
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter) rs180177356 0.00001
NM_152564.5(VPS13B):c.2911C>T (p.Arg971Ter) rs120074152 0.00001
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter) rs386834080 0.00001
NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter) rs386834086 0.00001
NM_152564.5(VPS13B):c.7528C>T (p.Arg2510Ter) rs386834107 0.00001
NM_152564.5(VPS13B):c.8044C>T (p.Arg2682Ter) rs386834110 0.00001
NC_000003.11:g.(41241162_41265511)_(41268844_41274831)del
NC_000008.10:g.(100115349_100123325)_(100182392_100205103)del
NC_000008.10:g.(100155394_100160068)_(100168972_100182266)del
NC_000008.10:g.(100155394_100160068)_(100396546_100403784)del
NC_000008.10:g.(100568882_100587885)_(100789185_100790909)del
NC_000008.10:g.(100568882_100587885)_(100791260_100796542)del
NC_000023.10:g.(119681095_119691778)_(119694481_119708405)del
NC_000023.10:g.(67454431_67494579)_(67518939_67652708)del
NC_000023.10:g.(76940499_76944310)_(76954118_76972607)del
NM_000478.6(ALPL):c.659G>A (p.Gly220Glu)
NM_000489.6(ATRX):c.1396A>T (p.Arg466Ter)
NM_000489.6(ATRX):c.1727C>A (p.Ser576Ter) rs2071372283
NM_000489.6(ATRX):c.1933dup (p.Ser645fs)
NM_000489.6(ATRX):c.2422C>T (p.Arg808Ter) rs891068548
NM_000489.6(ATRX):c.659G>A (p.Cys220Tyr) rs122445111
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000489.6(ATRX):c.77C>A (p.Ser26Ter) rs2073481839
NM_001003694.2(BRPF1):c.1038del (p.Arg347fs) rs2125500625
NM_001003694.2(BRPF1):c.940C>T (p.Gln314Ter)
NM_001008537.3(NEXMIF):c.2091_2113del (p.Asp698fs) rs2080109236
NM_001008537.3(NEXMIF):c.3592A>T (p.Lys1198Ter) rs2147439364
NM_001127178.3(PIGG):c.1702dup (p.Ser568fs)
NM_001127178.3(PIGG):c.2244dup (p.Ser749fs)
NM_001127178.3(PIGG):c.901+1del rs782318668
NM_001145358.2(SIN3A):c.1657C>T (p.Arg553Ter) rs1555444885
NM_001184880.2(PCDH19):c.986_987del (p.His329fs)
NM_001190274.2(FBXO11):c.2728G>T (p.Asp910Tyr)
NM_001272071.2(AP1S2):c.319del (p.Glu107fs)
NM_001282531.3(ADNP):c.2496_2499del (p.Asn832fs) rs587777523
NM_001282531.3(ADNP):c.3047dup (p.Ala1017fs)
NM_001347721.2(DYRK1A):c.848del (p.Asn283fs)
NM_001347721.2(DYRK1A):c.931_932del (p.Gln311fs) rs2148619406
NM_001349338.3(FOXP1):c.1146+1G>C rs1559650552
NM_001349338.3(FOXP1):c.1574G>A (p.Arg525Gln) rs1553663084
NM_001349338.3(FOXP1):c.659dup (p.Gln221fs) rs2049106504
NM_001356.5(DDX3X):c.1535_1536del (p.His512fs) rs796052230
NM_001356.5(DDX3X):c.1582C>T (p.Arg528Cys) rs1064795323
NM_001356.5(DDX3X):c.514_520dup (p.Asn174fs)
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter) rs1555953488
NM_001367721.1(CASK):c.2041C>T (p.Arg681Ter) rs587783360
NM_001376.5(DYNC1H1):c.6994C>T (p.Arg2332Cys) rs1057518961
NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys) rs879253979
NM_001429.4(EP300):c.598C>T (p.Arg200Ter) rs769721953
NM_001904.4(CTNNB1):c.1314dup (p.Cys439fs)
NM_001904.4(CTNNB1):c.1603C>T (p.Arg535Ter) rs886039332
NM_001904.4(CTNNB1):c.1863dup (p.Ala622fs)
NM_001904.4(CTNNB1):c.496-2A>G
NM_003070.5(SMARCA2):c.3475C>G (p.Arg1159Gly) rs281875184
NM_004187.5(KDM5C):c.1439C>T (p.Pro480Leu) rs1057518697
NM_004380.3(CREBBP):c.3099_3102del (p.Glu1034fs)
NM_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys) rs398124146
NM_004380.3(CREBBP):c.5197T>G (p.Tyr1733Asp)
NM_004380.3(CREBBP):c.598C>T (p.Gln200Ter) rs587783509
NM_004586.3(RPS6KA3):c.1894C>T (p.Arg632Ter) rs1085307639
NM_004586.3(RPS6KA3):c.212T>G (p.Leu71Ter) rs2068650679
NM_004595.5(SMS):c.335C>T (p.Pro112Leu) rs2147517480
NM_004606.5(TAF1):c.3407-1G>A
NM_005654.6(NR2F1):c.256T>C (p.Cys86Arg) rs1753210329
NM_005765.3(ATP6AP2):c.284C>A (p.Ser95Ter)
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys) rs863225079
NM_006517.5(SLC16A2):c.25G>T (p.Glu9Ter)
NM_006517.5(SLC16A2):c.604G>A (p.Gly202Arg) rs794727509
NM_006517.5(SLC16A2):c.653_660del (p.Val218fs)
NM_006517.5(SLC16A2):c.840C>A (p.Tyr280Ter) rs2147870607
NM_006565.4(CTCF):c.1016G>A (p.Arg339Gln) rs1567610917
NM_007363.5(NONO):c.276_288del (p.Lys92fs)
NM_007363.5(NONO):c.322_348+280del rs2148033540
NM_007363.5(NONO):c.332_348+280del
NM_013275.6(ANKRD11):c.7535G>C (p.Arg2512Pro)
NM_013275.6:c.(?_-462)_(-145+1_-144-1)del
NM_014795.4(ZEB2):c.1027C>T (p.Arg343Ter) rs786204815
NM_015335.5(MED13L):c.4456C>T (p.Gln1486Ter) rs1555243580
NM_015335.5(MED13L):c.5269dup (p.Gln1757fs) rs1877279397
NM_015335.5(MED13L):c.6501-2del
NM_015338.6(ASXL1):c.1751dup (p.Val585fs) rs748946310
NM_015338.6(ASXL1):c.1900_1922del (p.Glu635fs) rs766433101
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs) rs750318549
NM_015338.6(ASXL1):c.2197C>T (p.Gln733Ter) rs387907078
NM_015338.6(ASXL1):c.2324del (p.Arg774_Leu775insTer) rs765327792
NM_015338.6(ASXL1):c.2644C>T (p.Gln882Ter)
NM_015338.6(ASXL1):c.2982del (p.His995fs)
NM_015338.6(ASXL1):c.3637del (p.Leu1213fs) rs1569337176
NM_015338.6(ASXL1):c.4060G>T (p.Glu1354Ter) rs1569339085
NM_015570.4(AUTS2):c.784C>T (p.Gln262Ter) rs1585645384
NM_017890.5(VPS13B):c.4289dup (p.Phe1431fs) rs1427643616
NM_019023.5(PRMT7):c.1168C>T (p.Arg390Ter)
NM_019023.5(PRMT7):c.1499dup (p.Asp501fs) rs1567739042
NM_019023.5(PRMT7):c.477T>A (p.Tyr159Ter)
NM_019023.5(PRMT7):c.967C>T (p.Gln323Ter)
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_020987.5(ANK3):c.2125C>T (p.Arg709Ter) rs1234025820
NM_030665.4(RAI1):c.3534_3547del (p.Asp1179fs)
NM_030665.4(RAI1):c.5223del (p.Gly1742fs)
NM_030665.4(RAI1):c.5626dup (p.His1876fs)
NM_031407.7(HUWE1):c.12619G>A (p.Val4207Ile)
NM_031407.7(HUWE1):c.329G>A (p.Arg110Gln) rs1557036768
NM_152564.5(VPS13B):c.10381_10382del (p.Leu3462fs) rs180177371
NM_152564.5(VPS13B):c.10871G>A (p.Trp3624Ter) rs386834057
NM_152564.5(VPS13B):c.11016_11034del (p.Thr3673fs)
NM_152564.5(VPS13B):c.11338dup (p.Val3780fs) rs1554586953
NM_152564.5(VPS13B):c.11620_11623del (p.Ser3876fs) rs386834066
NM_152564.5(VPS13B):c.11673_11674del (p.Ala3892fs) rs1180933570
NM_152564.5(VPS13B):c.11702_11705del (p.Leu3901fs) rs1161589003
NM_152564.5(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs) rs386834067
NM_152564.5(VPS13B):c.11831_11840del (p.Pro3944fs) rs386834069
NM_152564.5(VPS13B):c.11831_11841delinsG (p.Pro3944fs) rs786204456
NM_152564.5(VPS13B):c.3027_3045dup (p.Tyr1016delinsIleIleSerGlyLeuTer) rs1057516670
NM_152564.5(VPS13B):c.3348_3349del (p.Cys1117fs) rs180177327
NM_152564.5(VPS13B):c.4304dup (p.Asn1435fs)
NM_152564.5(VPS13B):c.4745+2T>C rs386834091
NM_152564.5(VPS13B):c.5153_5154insC (p.Gln1719fs) rs1563806122
NM_152564.5(VPS13B):c.5154delinsCC (p.Gln1719fs) rs1554853667
NM_152564.5(VPS13B):c.6009del (p.Phe2003fs) rs1357171752
NM_152564.5(VPS13B):c.673C>T (p.Gln225Ter)
NM_152564.5(VPS13B):c.8446-1G>T rs1554566596
NM_152564.5(VPS13B):c.8622-9A>G rs386834116
NM_152564.5(VPS13B):c.8995-2A>G rs1554569259
NM_152564.5(VPS13B):c.901_904del (p.Thr301fs) rs759536357
NM_152564.5(VPS13B):c.9331-1G>T rs386834119
NM_152564.5(VPS13B):c.9331-1_9332delinsTTT
NM_152564.5(VPS13B):c.9718dup (p.Met3240fs) rs886041185

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