ClinVar Miner

List of variants studied for X-linked syndromic intellectual disability by Genomic Research Center,Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (165):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 73
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HGVS dbSNP
NM_000033.4(ABCD1):c.1452C>G (p.Pro484=) rs782546330
NM_000052.7(ATP7A):c.3049G>A (p.Gly1017Arg) rs1557236754
NM_000052.7(ATP7A):c.3140G>A (p.Gly1047Glu) rs1557237050
NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp) rs370736173
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln) rs786204123
NM_000166.6(GJB1):c.670C>T (p.Arg224Cys) rs1426533412
NM_000194.2(HPRT1):c.151C>T (p.Arg51Ter) rs137852494
NM_000202.8(IDS):c.1099A>T (p.Thr367Ser) rs1557338131
NM_000202.8(IDS):c.196C>T (p.Gln66Ter) rs1557340403
NM_000202.8(IDS):c.473_475ATC[1] (p.His159del) rs1557339887
NM_000276.4(OCRL):c.40-5C>T rs201211377
NM_000284.4(PDHA1):c.1133G>A (p.Arg378His) rs137853250
NM_000489.5(ATRX):c.5968_5970TCT[2] (p.Ser1992del) rs782391479
NM_000531.6(OTC):c.674C>T (p.Pro225Leu) rs67120076
NM_000925.4(PDHB):c.962C>T (p.Pro321Leu)
NM_001001344.2(ATP2B3):c.3284G>A (p.Arg1095Gln)
NM_001039591.3(USP9X):c.3304G>A (p.Ala1102Thr) rs1555927212
NM_001110556.2(FLNA):c.2122C>T (p.Arg708Trp)
NM_001110556.2(FLNA):c.546G>C (p.Gln182His) rs1557179648
NM_001110792.2(MECP2):c.6_8CGC[8] (p.Ala7_Ala8dup) rs398123566
NM_001123383.1(BCOR):c.2035G>A (p.Val679Ile) rs144722432
NM_001123383.1(BCOR):c.3437_3445del (p.Glu1146_Thr1148del) rs1555915744
NM_001184.4(ATR):c.3152G>A (p.Arg1051His)
NM_001278116.2(L1CAM):c.2278C>T (p.Arg760Ter) rs797045673
NM_001356.4(DDX3X):c.1052G>A (p.Arg351Gln) rs1057518707
NM_001356.4(DDX3X):c.58G>T (p.Asp20Tyr) rs1569233520
NM_001866.3(COX7B):c.217A>G (p.Thr73Ala)
NM_002139.4(RBMX):c.389-8T>C rs181515589
NM_002495.4(NDUFS4):c.355G>C (p.Asp119His)
NM_002547.3(OPHN1):c.215T>C (p.Ile72Thr) rs763066236
NM_002547.3(OPHN1):c.2168A>G (p.Asp723Gly) rs374431961
NM_003159.2(CDKL5):c.1094G>C (p.Ser365Thr) rs1279388510
NM_003159.2(CDKL5):c.173T>A (p.Leu58Ter) rs875989950
NM_003159.2(CDKL5):c.2452_2459del (p.Pro818fs) rs1555954737
NM_003688.3(CASK):c.824G>A (p.Trp275Ter)
NM_004187.4(KDM5C):c.*129C>T
NM_004187.4(KDM5C):c.3442G>A (p.Val1148Met) rs782205045
NM_004429.4(EFNB1):c.749T>G (p.Ile250Ser) rs1569398326
NM_004484.3(GPC3):c.1159C>T (p.Arg387Ter) rs122453121
NM_004493.2(HSD17B10):c.253G>A (p.Val85Met) rs1211736877
NM_004551.3(NDUFS3):c.596G>A (p.Arg199Gln) rs771783839
NM_004586.3(RPS6KA3):c.2185C>T (p.Arg729Trp) rs1555924331
NM_004992.3(MECP2):c.1163_1197del (p.Pro388fs) rs267608589
NM_004992.3(MECP2):c.378-3C>T rs267608465
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906
NM_004992.3(MECP2):c.502C>T (p.Arg168Ter) rs61748421
NM_004992.3(MECP2):c.590C>T (p.Thr197Met) rs61749714
NM_004992.3(MECP2):c.602C>T (p.Ala201Val) rs61748381
NM_005120.3(MED12):c.3210-27C>T rs752463122
NM_005120.3(MED12):c.6177_6191del (p.Gln2072_Gln2076del) rs767827315
NM_005120.3(MED12):c.6241_6243CAG[7] (p.Gln2086dup) rs786200971
NM_005120.3(MED12):c.6267+166G>A rs1247198443
NM_005333.5(HCCS):c.199C>A (p.Pro67Thr) rs1413276234
NM_006517.5(SLC16A2):c.1170+4_1170+7del rs1555989846
NM_006517.5(SLC16A2):c.25G>A (p.Glu9Lys)
NM_007103.4(NDUFV1):c.731A>T (p.Asn244Ile) rs1235686151
NM_007325.5(GRIA3):c.813G>C (p.Gln271His)
NM_014049.5(ACAD9):c.959-3C>G rs1553731751
NM_014467.3(SRPX2):c.1030C>A (p.Leu344Ile) rs149051060
NM_014927.5(CNKSR2):c.1734G>A (p.Trp578Ter) rs1569261319
NM_015107.3(PHF8):c.2258G>A (p.Arg753Gln) rs1263803925
NM_015884.4(MBTPS2):c.529A>C (p.Ile177Leu) rs766760741
NM_016013.4(NDUFAF1):c.901A>T (p.Ile301Phe) rs759274620
NM_017547.4(FOXRED1):c.568C>T (p.Pro190Ser) rs1555065162
NM_017547.4(FOXRED1):c.632G>C (p.Gly211Ala) rs536400690
NM_018684.4(ZC4H2):c.375_377AGA[1] (p.Glu128del) rs750367160
NM_019056.6(NDUFB11):c.389G>A (p.Arg130His)
NM_020717.3(SHROOM4):c.2672G>T (p.Ser891Ile) rs1569546782
NM_020717.3(SHROOM4):c.3071T>C (p.Leu1024Pro)
NM_020717.3(SHROOM4):c.3955G>A (p.Glu1319Lys)
NM_020717.3(SHROOM4):c.436C>T (p.Arg146Trp) rs189694750
NM_025152.3(NUBPL):c.593A>C (p.Asn198Thr) rs11558436
NM_031407.7(HUWE1):c.4639G>A (p.Val1547Met) rs1569473370

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