ClinVar Miner

List of variants studied for X-linked intellectual disability, Cantagrel type by Invitae

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 61
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HGVS dbSNP
NM_001008537.3(NEXMIF):c.1121G>A (p.Gly374Glu) rs756593372
NM_001008537.3(NEXMIF):c.1132A>G (p.Lys378Glu) rs61741844
NM_001008537.3(NEXMIF):c.1154G>A (p.Gly385Asp) rs375109305
NM_001008537.3(NEXMIF):c.1256A>G (p.Glu419Gly) rs1018310077
NM_001008537.3(NEXMIF):c.1328G>A (p.Ser443Asn) rs1569335728
NM_001008537.3(NEXMIF):c.1349A>T (p.Tyr450Phe) rs1569335723
NM_001008537.3(NEXMIF):c.1370A>G (p.Lys457Arg) rs1008249667
NM_001008537.3(NEXMIF):c.1417T>C (p.Ser473Pro)
NM_001008537.3(NEXMIF):c.16G>T (p.Asp6Tyr) rs1569336346
NM_001008537.3(NEXMIF):c.1728C>A (p.Asn576Lys)
NM_001008537.3(NEXMIF):c.1757G>C (p.Gly586Ala) rs776845564
NM_001008537.3(NEXMIF):c.1789A>G (p.Thr597Ala) rs752183295
NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter) rs786205208
NM_001008537.3(NEXMIF):c.1904G>C (p.Arg635Thr) rs766086192
NM_001008537.3(NEXMIF):c.1983C>T (p.His661=) rs138583612
NM_001008537.3(NEXMIF):c.2062G>A (p.Gly688Arg)
NM_001008537.3(NEXMIF):c.206C>T (p.Ser69Phe) rs201351157
NM_001008537.3(NEXMIF):c.2130G>A (p.Lys710=) rs749479992
NM_001008537.3(NEXMIF):c.2147T>G (p.Val716Gly) rs1022775047
NM_001008537.3(NEXMIF):c.2166_2168delinsAC (p.Phe722fs) rs1556016529
NM_001008537.3(NEXMIF):c.2241C>A (p.Ser747Arg) rs762464608
NM_001008537.3(NEXMIF):c.2251del (p.Glu751fs) rs1569335485
NM_001008537.3(NEXMIF):c.2297G>A (p.Gly766Glu) rs1031348126
NM_001008537.3(NEXMIF):c.2357C>G (p.Thr786Ser)
NM_001008537.3(NEXMIF):c.2363T>C (p.Leu788Pro) rs894871556
NM_001008537.3(NEXMIF):c.2372C>T (p.Thr791Ile) rs1556016474
NM_001008537.3(NEXMIF):c.2404A>G (p.Asn802Asp)
NM_001008537.3(NEXMIF):c.2504A>C (p.His835Pro) rs762983389
NM_001008537.3(NEXMIF):c.2508T>G (p.His836Gln) rs1342098183
NM_001008537.3(NEXMIF):c.2527G>C (p.Gly843Arg)
NM_001008537.3(NEXMIF):c.2570C>T (p.Pro857Leu)
NM_001008537.3(NEXMIF):c.2598C>A (p.Ser866=) rs41298498
NM_001008537.3(NEXMIF):c.262G>A (p.Glu88Lys)
NM_001008537.3(NEXMIF):c.2673del (p.Asn891fs) rs1556016438
NM_001008537.3(NEXMIF):c.2723T>G (p.Ile908Arg)
NM_001008537.3(NEXMIF):c.2801A>G (p.Asn934Ser) rs41306133
NM_001008537.3(NEXMIF):c.2986A>G (p.Met996Val) rs779441513
NM_001008537.3(NEXMIF):c.3011_3014del (p.Ser1004fs) rs1556016381
NM_001008537.3(NEXMIF):c.3226del (p.Thr1076fs) rs1556016352
NM_001008537.3(NEXMIF):c.3230del (p.Pro1077fs) rs1556016350
NM_001008537.3(NEXMIF):c.3334del (p.Ile1112fs) rs1569335135
NM_001008537.3(NEXMIF):c.3361C>T (p.Arg1121Trp) rs199579887
NM_001008537.3(NEXMIF):c.3375G>A (p.Met1125Ile) rs1556016332
NM_001008537.3(NEXMIF):c.3481G>T (p.Asp1161Tyr)
NM_001008537.3(NEXMIF):c.3574T>C (p.Ser1192Pro) rs1286509026
NM_001008537.3(NEXMIF):c.3595_3611del (p.Lys1199fs) rs1556016292
NM_001008537.3(NEXMIF):c.3638G>A (p.Gly1213Asp)
NM_001008537.3(NEXMIF):c.3653A>G (p.Gln1218Arg) rs946717276
NM_001008537.3(NEXMIF):c.3753A>G (p.Ile1251Met) rs143365662
NM_001008537.3(NEXMIF):c.3775G>A (p.Ala1259Thr) rs761368099
NM_001008537.3(NEXMIF):c.3782G>C (p.Cys1261Ser) rs1339493509
NM_001008537.3(NEXMIF):c.3800del (p.Pro1267fs) rs1569334937
NM_001008537.3(NEXMIF):c.395C>T (p.Ser132Leu)
NM_001008537.3(NEXMIF):c.4289A>C (p.Lys1430Thr) rs774654591
NM_001008537.3(NEXMIF):c.4368C>A (p.Ala1456=) rs781623230
NM_001008537.3(NEXMIF):c.4493C>T (p.Thr1498Ile)
NM_001008537.3(NEXMIF):c.507_511del (p.Asp169fs)
NM_001008537.3(NEXMIF):c.563A>C (p.Asn188Thr) rs753449220
NM_001008537.3(NEXMIF):c.61A>G (p.Asn21Asp) rs1364113624
NM_001008537.3(NEXMIF):c.911G>T (p.Gly304Val) rs376455886
NM_001008537.3(NEXMIF):c.937C>T (p.Arg313Ter) rs878854425

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