ClinVar Miner

List of variants studied for X-linked disease by Myriad Genetics, Inc.

Included ClinVar conditions (274):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 170
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HGVS dbSNP gnomAD frequency
NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr) rs782293513 0.00001
NM_000330.4(RS1):c.214G>A (p.Glu72Lys) rs104894928 0.00001
NM_000033.4(ABCD1):c.1047_1056delinsATTATT (p.Pro350fs)
NM_000033.4(ABCD1):c.1075G>T (p.Glu359Ter)
NM_000033.4(ABCD1):c.1117A>T (p.Lys373Ter)
NM_000033.4(ABCD1):c.1511_1517del (p.Leu504fs)
NM_000033.4(ABCD1):c.1537A>T (p.Lys513Ter)
NM_000033.4(ABCD1):c.951_952del (p.Asn318fs)
NM_000052.7(ATP7A):c.1077del (p.Ser360fs)
NM_000052.7(ATP7A):c.1139_1142delinsGAA (p.Val380fs)
NM_000052.7(ATP7A):c.1172del (p.Cys391fs)
NM_000052.7(ATP7A):c.1257_1267del (p.Glu420fs)
NM_000052.7(ATP7A):c.1296_1297del (p.Gly433fs)
NM_000052.7(ATP7A):c.140dup (p.Asn47fs)
NM_000052.7(ATP7A):c.1415_1416insATACA (p.Lys473fs)
NM_000052.7(ATP7A):c.1419_1420insCTCT (p.Gly474fs)
NM_000052.7(ATP7A):c.1424_1425del (p.Met475fs)
NM_000052.7(ATP7A):c.1439_1443del (p.Asp480fs)
NM_000052.7(ATP7A):c.1465_1466del (p.Lys489fs)
NM_000052.7(ATP7A):c.1537dup (p.Glu513fs)
NM_000052.7(ATP7A):c.1599_1603delinsGAGA (p.Asn533fs)
NM_000052.7(ATP7A):c.1605del (p.Val536fs)
NM_000052.7(ATP7A):c.1608_1611del (p.Ile537fs)
NM_000052.7(ATP7A):c.1614_1615delinsCAT (p.Gln538fs)
NM_000052.7(ATP7A):c.1697del (p.Leu566fs)
NM_000052.7(ATP7A):c.1768A>T (p.Arg590Ter)
NM_000052.7(ATP7A):c.1875_1876del (p.Gly626fs)
NM_000052.7(ATP7A):c.1924_1925del (p.Asp642fs)
NM_000052.7(ATP7A):c.1924del (p.Asp642fs)
NM_000052.7(ATP7A):c.2045_2046del (p.His682fs)
NM_000052.7(ATP7A):c.2051del (p.Asn684fs)
NM_000052.7(ATP7A):c.2086_2087del (p.His696fs)
NM_000052.7(ATP7A):c.2110C>T (p.Gln704Ter)
NM_000052.7(ATP7A):c.2164_2167del (p.Pro722fs)
NM_000052.7(ATP7A):c.2207del (p.Tyr736fs)
NM_000052.7(ATP7A):c.2224A>T (p.Lys742Ter)
NM_000052.7(ATP7A):c.2261_2262del (p.Thr754fs)
NM_000052.7(ATP7A):c.2334dup (p.Thr779fs)
NM_000052.7(ATP7A):c.256_262del (p.Asp86fs)
NM_000052.7(ATP7A):c.293T>A (p.Leu98Ter)
NM_000052.7(ATP7A):c.2953del (p.Ile985fs)
NM_000052.7(ATP7A):c.3013G>T (p.Gly1005Ter)
NM_000052.7(ATP7A):c.3081del (p.Gly1028fs)
NM_000052.7(ATP7A):c.319_320insACTGTCTCTTA (p.Leu107fs)
NM_000052.7(ATP7A):c.3209_3210del (p.His1070fs)
NM_000052.7(ATP7A):c.3289A>T (p.Lys1097Ter)
NM_000052.7(ATP7A):c.338_339del (p.Val113fs)
NM_000052.7(ATP7A):c.348del (p.Ile118fs)
NM_000052.7(ATP7A):c.3499_3500delinsA (p.Ala1167fs)
NM_000052.7(ATP7A):c.349A>T (p.Lys117Ter)
NM_000052.7(ATP7A):c.3515_3522delinsAAG (p.Ala1172fs)
NM_000052.7(ATP7A):c.3518_3519del (p.Leu1173fs)
NM_000052.7(ATP7A):c.360_363delinsAA (p.Gln121fs)
NM_000052.7(ATP7A):c.3612_3613del (p.Glu1205fs)
NM_000052.7(ATP7A):c.3667_3669delinsA (p.Cys1223fs)
NM_000052.7(ATP7A):c.3692del (p.Thr1231fs)
NM_000052.7(ATP7A):c.3793_3794del (p.Ala1265fs)
NM_000052.7(ATP7A):c.380_381del (p.Val127fs)
NM_000052.7(ATP7A):c.3853A>T (p.Lys1285Ter)
NM_000052.7(ATP7A):c.4040T>A (p.Leu1347Ter)
NM_000052.7(ATP7A):c.4043C>A (p.Ser1348Ter)
NM_000052.7(ATP7A):c.412C>T (p.Gln138Ter)
NM_000052.7(ATP7A):c.420_423delinsCTGTCTCTTATACACAT (p.Lys140fs)
NM_000052.7(ATP7A):c.469_470del (p.Ser157fs)
NM_000052.7(ATP7A):c.520A>T (p.Lys174Ter)
NM_000052.7(ATP7A):c.526A>T (p.Lys176Ter)
NM_000052.7(ATP7A):c.706_707insTC (p.Ala236fs)
NM_000052.7(ATP7A):c.753_755delinsA (p.Asp251fs)
NM_000052.7(ATP7A):c.973_974del (p.Val326fs)
NM_000252.3(MTM1):c.1011G>A (p.Trp337Ter)
NM_000252.3(MTM1):c.1022T>A (p.Leu341Ter)
NM_000252.3(MTM1):c.1037G>A (p.Trp346Ter) rs781939560
NM_000252.3(MTM1):c.1045_1046insCCCCT (p.His349fs)
NM_000252.3(MTM1):c.1057_1058insACGA (p.Val353fs)
NM_000252.3(MTM1):c.1132G>T (p.Gly378Ter) rs587783755
NM_000252.3(MTM1):c.1153_1156delinsTGT (p.Leu385fs)
NM_000252.3(MTM1):c.1195_1199delinsTGC (p.Ser399fs)
NM_000252.3(MTM1):c.1201G>T (p.Glu401Ter) rs2040152185
NM_000252.3(MTM1):c.1319del (p.Gln440fs)
NM_000252.3(MTM1):c.302_303del (p.Ser101fs)
NM_000252.3(MTM1):c.350_351del (p.Arg117fs)
NM_000252.3(MTM1):c.388A>T (p.Arg130Ter) rs2039434309
NM_000252.3(MTM1):c.405_408delinsTT (p.Glu135fs)
NM_000252.3(MTM1):c.487G>T (p.Gly163Ter) rs2039802744
NM_000252.3(MTM1):c.550A>T (p.Arg184Ter)
NM_000252.3(MTM1):c.730_731del (p.Gln244fs)
NM_000252.3(MTM1):c.763A>T (p.Lys255Ter)
NM_000252.3(MTM1):c.805A>T (p.Lys269Ter) rs2039921355
NM_000252.3(MTM1):c.838A>T (p.Arg280Ter) rs2039922261
NM_000252.3(MTM1):c.925_926del (p.Leu309fs)
NM_000252.3(MTM1):c.935_936insACTGTCTC (p.His312fs)
NM_000252.3(MTM1):c.97G>T (p.Glu33Ter) rs2038978870
NM_000330.4(RS1):c.60_64del (p.Leu20fs)
NM_000390.4(CHM):c.1186G>T (p.Gly396Ter)
NM_000390.4(CHM):c.129T>A (p.Tyr43Ter)
NM_000390.4(CHM):c.1530C>A (p.Cys510Ter)
NM_000390.4(CHM):c.70_71insAGACAGT (p.Ala24fs)
NM_000390.4(CHM):c.73_74insTATAAGAGACAGT (p.Ala25delinsValTer)
NM_000390.4(CHM):c.82_83del (p.Ser28fs)
NM_000390.4(CHM):c.963T>A (p.Tyr321Ter)
NM_033380.3(COL4A5):c.1075G>T (p.Gly359Ter) rs1569492122
NM_033380.3(COL4A5):c.1198G>T (p.Gly400Ter) rs2066424636
NM_033380.3(COL4A5):c.1378G>T (p.Gly460Ter) rs2066435557
NM_033380.3(COL4A5):c.1395del (p.Gly466fs)
NM_033380.3(COL4A5):c.1482_1483del (p.Gln495fs)
NM_033380.3(COL4A5):c.1748T>A (p.Leu583Ter)
NM_033380.3(COL4A5):c.182T>A (p.Leu61Ter) rs2065868148
NM_033380.3(COL4A5):c.216del (p.Pro73fs)
NM_033380.3(COL4A5):c.2180_2183del (p.Pro727fs)
NM_033380.3(COL4A5):c.2202_2204delinsA (p.Leu735fs)
NM_033380.3(COL4A5):c.2322del (p.Gly775fs)
NM_033380.3(COL4A5):c.2392A>T (p.Lys798Ter) rs1298839151
NM_033380.3(COL4A5):c.2422G>T (p.Gly808Ter) rs2066899099
NM_033380.3(COL4A5):c.2576del (p.Pro859fs)
NM_033380.3(COL4A5):c.2604del (p.Gly869fs) rs1556419850
NM_033380.3(COL4A5):c.2637_2638del (p.Pro880fs)
NM_033380.3(COL4A5):c.2653A>T (p.Lys885Ter) rs2067017511
NM_033380.3(COL4A5):c.2668G>T (p.Gly890Ter)
NM_033380.3(COL4A5):c.2683A>T (p.Lys895Ter)
NM_033380.3(COL4A5):c.2693_2697del (p.Met898fs)
NM_033380.3(COL4A5):c.272_275delinsCTTTTAAT (p.Ile91fs)
NM_033380.3(COL4A5):c.2764A>T (p.Lys922Ter) rs2067060145
NM_033380.3(COL4A5):c.2910_2912delinsA (p.Leu971fs)
NM_033380.3(COL4A5):c.2926G>T (p.Gly976Ter) rs2067108651
NM_033380.3(COL4A5):c.2949T>A (p.Tyr983Ter) rs2067109223
NM_033380.3(COL4A5):c.2957T>A (p.Leu986Ter) rs2067109423
NM_033380.3(COL4A5):c.295_296del (p.Gly99fs)
NM_033380.3(COL4A5):c.2992C>T (p.Gln998Ter) rs756070988
NM_033380.3(COL4A5):c.3002T>A (p.Leu1001Ter)
NM_033380.3(COL4A5):c.3043G>T (p.Gly1015Ter) rs2067140465
NM_033380.3(COL4A5):c.3151G>T (p.Gly1051Ter) rs2067151807
NM_033380.3(COL4A5):c.3179del (p.Gly1060fs)
NM_033380.3(COL4A5):c.3244A>T (p.Lys1082Ter) rs2067154422
NM_033380.3(COL4A5):c.3270C>A (p.Tyr1090Ter) rs2067818573
NM_033380.3(COL4A5):c.3371del (p.Pro1124fs)
NM_033380.3(COL4A5):c.3460G>T (p.Gly1154Ter)
NM_033380.3(COL4A5):c.3488del (p.Pro1163fs)
NM_033380.3(COL4A5):c.3535G>T (p.Gly1179Ter) rs104886240
NM_033380.3(COL4A5):c.3619G>T (p.Gly1207Ter) rs2068126785
NM_033380.3(COL4A5):c.367G>T (p.Gly123Ter)
NM_033380.3(COL4A5):c.3782_3783del (p.Gly1261fs)
NM_033380.3(COL4A5):c.3784A>T (p.Arg1262Ter)
NM_033380.3(COL4A5):c.3784del (p.Arg1262fs)
NM_033380.3(COL4A5):c.3955dup (p.Arg1319fs)
NM_033380.3(COL4A5):c.4021A>T (p.Lys1341Ter) rs2068413590
NM_033380.3(COL4A5):c.4057G>T (p.Glu1353Ter)
NM_033380.3(COL4A5):c.40_41del (p.Leu14fs)
NM_033380.3(COL4A5):c.4211T>A (p.Leu1404Ter)
NM_033380.3(COL4A5):c.4309C>T (p.Gln1437Ter) rs143778018
NM_033380.3(COL4A5):c.4313del (p.Pro1438fs)
NM_033380.3(COL4A5):c.4378_4379insA (p.Gly1460fs)
NM_033380.3(COL4A5):c.439G>T (p.Gly147Ter) rs2066069145
NM_033380.3(COL4A5):c.4410del (p.Thr1471fs)
NM_033380.3(COL4A5):c.4504A>T (p.Lys1502Ter)
NM_033380.3(COL4A5):c.4507del (p.Arg1503fs)
NM_033380.3(COL4A5):c.4609_4610del (p.Ser1537fs)
NM_033380.3(COL4A5):c.4631G>A (p.Trp1544Ter) rs104886293
NM_033380.3(COL4A5):c.469G>T (p.Glu157Ter)
NM_033380.3(COL4A5):c.4752_4753delinsA (p.Ser1584fs)
NM_033380.3(COL4A5):c.4762C>T (p.Gln1588Ter)
NM_033380.3(COL4A5):c.4783G>T (p.Gly1595Ter)
NM_033380.3(COL4A5):c.494C>G (p.Ser165Ter) rs2066099798
NM_033380.3(COL4A5):c.515del (p.Asn172fs)
NM_033380.3(COL4A5):c.67_68del (p.Pro23fs)
NM_033380.3(COL4A5):c.681_682del (p.Glu228fs)
NM_033380.3(COL4A5):c.694C>T (p.Gln232Ter)
NM_033380.3(COL4A5):c.703C>T (p.Gln235Ter)
NM_033380.3(COL4A5):c.710del (p.Pro237fs)
NM_033380.3(COL4A5):c.745A>T (p.Arg249Ter) rs2066188778
NM_033380.3(COL4A5):c.948_949del (p.Asp317fs)

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