ClinVar Miner

List of variants studied for X-linked syndromic intellectual disability by GeneReviews

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_006517.5(SLC16A2):c.97T>C (p.Ser33Pro) rs6647476 0.54054
NM_006517.5(SLC16A2):c.873A>T (p.Pro291=) rs12849161 0.00922
NM_005120.3(MED12):c.4111C>T (p.Pro1371Ser) rs587778437 0.00018
NM_001356.5(DDX3X):c.236G>A (p.Arg79Lys) rs1064795656 0.00002
NM_005120.3(MED12):c.2312T>C (p.Ile771Thr) rs778325168 0.00001
NM_005120.3(MED12):c.2444G>A (p.Arg815Gln) rs762905361 0.00001
NM_005120.3(MED12):c.617G>A (p.Arg206Gln) rs2092288110 0.00001
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_001110556.2(FLNA):c.3552C>A (p.Asp1184Glu) rs80338837
NM_001110556.2(FLNA):c.3562G>A (p.Ala1188Thr) rs28935472
NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu) rs28935473
NM_001356.5(DDX3X):c.1052G>A (p.Arg351Gln) rs1057518707
NM_001356.5(DDX3X):c.1084C>T (p.Arg362Cys) rs797045026
NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys) rs796052231
NM_001356.5(DDX3X):c.1127G>A (p.Arg376His) rs2063908570
NM_001356.5(DDX3X):c.1399G>T (p.Ala467Ser) rs2147358490
NM_001356.5(DDX3X):c.1486G>A (p.Val496Met) rs1555954154
NM_001356.5(DDX3X):c.1535_1536del (p.His512fs) rs796052230
NM_001356.5(DDX3X):c.1702C>T (p.Pro568Ser) rs2147360044
NM_001356.5(DDX3X):c.443+3A>T rs2147350644
NM_001356.5(DDX3X):c.898G>T (p.Val300Phe) rs2147353947
NM_003491.4(NAA10):c.471+2T>A rs587776457
NM_004595.5(SMS):c.166G>A (p.Gly56Ser) rs121434610
NM_004595.5(SMS):c.174T>A (p.Phe58Leu) rs397515549
NM_004595.5(SMS):c.329+5G>A rs397515381
NM_004595.5(SMS):c.388C>T (p.Arg130Cys) rs1602210346
NM_004595.5(SMS):c.443A>G (p.Gln148Arg) rs397515551
NM_004595.5(SMS):c.908_911del (p.Met303fs) rs1602220706
NM_005120.3(MED12):c.1249-1G>C rs2147783158
NM_005120.3(MED12):c.1547G>A (p.Arg516His) rs1556334969
NM_005120.3(MED12):c.1862G>A (p.Arg621Gln) rs1057519381
NM_005120.3(MED12):c.2207_2210del (p.Thr736fs) rs2147791922
NM_005120.3(MED12):c.2663dup (p.Leu889fs) rs2147796613
NM_005120.3(MED12):c.2669T>A (p.Ile890Asn) rs2147796647
NM_005120.3(MED12):c.2692A>G (p.Asn898Asp) rs2147797665
NM_005120.3(MED12):c.2735C>T (p.Ser912Leu) rs2147797835
NM_005120.3(MED12):c.2786T>A (p.Val929Asp) rs2147798220
NM_005120.3(MED12):c.2861T>G (p.Val954Gly) rs2147799283
NM_005120.3(MED12):c.2873G>A (p.Gly958Glu) rs397515554
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005120.3(MED12):c.3020A>G (p.Asn1007Ser) rs80338759
NM_005120.3(MED12):c.3067A>G (p.Ile1023Val) rs879255526
NM_005120.3(MED12):c.322C>T (p.Arg108Ter) rs2147773440
NM_005120.3(MED12):c.3271G>A (p.Glu1091Lys) rs2147802318
NM_005120.3(MED12):c.3412C>T (p.Arg1138Trp) rs1057523906
NM_005120.3(MED12):c.3443G>A (p.Arg1148His) rs387907360
NM_005120.3(MED12):c.3493T>C (p.Ser1165Pro) rs387907361
NM_005120.3(MED12):c.3640C>T (p.Arg1214Cys) rs2092311077
NM_005120.3(MED12):c.3646G>A (p.Val1216Met) rs2147805923
NM_005120.3(MED12):c.3653G>A (p.Gly1218Glu) rs2147805960
NM_005120.3(MED12):c.3883C>T (p.Arg1295Cys) rs863223706
NM_005120.3(MED12):c.3884G>A (p.Arg1295His) rs1556337063
NM_005120.3(MED12):c.3932T>A (p.Val1311Glu) rs2147808490
NM_005120.3(MED12):c.3935T>C (p.Leu1312Ser) rs2147808505
NM_005120.3(MED12):c.4070G>A (p.Arg1357His) rs2147811858
NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr) rs863223696
NM_005120.3(MED12):c.4400G>A (p.Arg1467Gln) rs1488533087
NM_005120.3(MED12):c.4669T>C (p.Trp1557Arg) rs794727576
NM_005120.3(MED12):c.4832G>A (p.Arg1611His) rs1569482153
NM_005120.3(MED12):c.4903_4906delinsCCAGCA (p.Val1635fs) rs2147823333
NM_005120.3(MED12):c.5111G>A (p.Trp1704Ter) rs2147826070
NM_005120.3(MED12):c.514G>C (p.Glu172Gln) rs2147774632
NM_005120.3(MED12):c.5185C>A (p.His1729Asn) rs387907362
NM_005120.3(MED12):c.5622C>A (p.Tyr1874Ter) rs2147829167
NM_005120.3(MED12):c.5898dup (p.Ser1967fs) rs879255527
NM_005120.3(MED12):c.5919C>A (p.Tyr1973Ter) rs2147830849
NM_005120.3(MED12):c.5922G>T (p.Gln1974His) rs879255528
NM_005120.3(MED12):c.6169C>T (p.Gln2057Ter) rs2147839335
NM_005120.3(MED12):c.6231C>A (p.Tyr2077Ter) rs2147839986
NM_005120.3(MED12):c.6241CAG[3] (p.Gln2084_Gln2086del) rs786200971
NM_005120.3(MED12):c.6268C>T (p.Gln2090Ter) rs2147841562
NM_005120.3(MED12):c.6280C>T (p.Gln2094Ter) rs2147841653
NM_005120.3(MED12):c.6448C>T (p.Gln2150Ter) rs2147844887
NM_005120.3(MED12):c.6476A>C (p.Gln2159Pro) rs1085307941
NM_005120.3(MED12):c.887G>A (p.Arg296Gln) rs1556334519
NM_006517.5(SLC16A2):c.1079T>G (p.Leu360Trp) rs104894939
NM_006517.5(SLC16A2):c.1253T>C (p.Leu418Pro) rs367543059
NM_006517.5(SLC16A2):c.1276TTC[1] (p.Phe427del) rs113994164
NM_006517.5(SLC16A2):c.1481T>C (p.Leu494Pro) rs104894938
NM_006517.5(SLC16A2):c.1613del (p.Pro538fs) rs113994166
NM_006517.5(SLC16A2):c.359C>T (p.Ser120Phe) rs113994162

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