ClinVar Miner

List of variants studied for disorder of metabolite absorption and transport by Myriad Genetics, Inc.

Included ClinVar conditions (85):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 150
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HGVS dbSNP gnomAD frequency
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317 0.00282
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636 0.00100
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_000053.4(ATP7B):c.1922T>C (p.Leu641Ser) rs186924074 0.00059
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998 0.00041
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266 0.00034
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_000053.4(ATP7B):c.2305A>G (p.Met769Val) rs193922103 0.00015
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784 0.00014
NM_000053.4(ATP7B):c.2930C>T (p.Thr977Met) rs72552255 0.00011
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu) rs28942074 0.00010
NM_000053.4(ATP7B):c.503T>C (p.Leu168Pro) rs756237962 0.00004
NM_000053.4(ATP7B):c.2391_2393del (p.Leu798del) rs772383075 0.00003
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser) rs121907990 0.00003
NM_052845.4(MMAB):c.291-1G>A rs199971687 0.00003
NM_000053.4(ATP7B):c.2072G>T (p.Gly691Val) rs1555291801 0.00002
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln) rs765822392 0.00002
NM_000053.4(ATP7B):c.1708-1G>C rs137853280 0.00001
NM_000053.4(ATP7B):c.2530A>T (p.Lys844Ter) rs780292767 0.00001
NM_000053.4(ATP7B):c.2865+1G>A rs587783306 0.00001
NM_000053.4(ATP7B):c.3556+1G>A rs184388696 0.00001
NM_000053.4(ATP7B):c.372C>A (p.Ser124Arg) rs1489384071 0.00001
NM_052845.4(MMAB):c.197-1G>T rs763935916 0.00001
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_000053.4(ATP7B):c.1397_1403del (p.Leu466fs)
NM_000053.4(ATP7B):c.1465A>T (p.Lys489Ter)
NM_000053.4(ATP7B):c.1475del (p.Leu492fs)
NM_000053.4(ATP7B):c.1497T>A (p.Cys499Ter)
NM_000053.4(ATP7B):c.1580del (p.Lys527fs)
NM_000053.4(ATP7B):c.1596T>A (p.Tyr532Ter) rs1951683498
NM_000053.4(ATP7B):c.167dup (p.Val57fs)
NM_000053.4(ATP7B):c.1699G>T (p.Glu567Ter) rs1454088856
NM_000053.4(ATP7B):c.1727_1728del (p.Ala576fs)
NM_000053.4(ATP7B):c.1738del (p.His580fs)
NM_000053.4(ATP7B):c.1819A>T (p.Lys607Ter) rs1951466736
NM_000053.4(ATP7B):c.2069C>T (p.Pro690Leu) rs1555291809
NM_000053.4(ATP7B):c.218_219del (p.Val73fs)
NM_000053.4(ATP7B):c.220A>T (p.Lys74Ter) rs1952035259
NM_000053.4(ATP7B):c.229G>T (p.Glu77Ter) rs1952034577
NM_000053.4(ATP7B):c.2512_2513del (p.Lys838fs)
NM_000053.4(ATP7B):c.2673del (p.Asn892fs)
NM_000053.4(ATP7B):c.2687del (p.Leu896fs)
NM_000053.4(ATP7B):c.2885_2895del (p.Ser962fs)
NM_000053.4(ATP7B):c.2915_2916delinsA (p.Phe972fs)
NM_000053.4(ATP7B):c.2947_2950del (p.Cys983fs)
NM_000053.4(ATP7B):c.2949C>A (p.Cys983Ter) rs1957660801
NM_000053.4(ATP7B):c.2964del (p.Leu989fs)
NM_000053.4(ATP7B):c.3027_3028del (p.Lys1010fs)
NM_000053.4(ATP7B):c.3163A>T (p.Lys1055Ter) rs1957512345
NM_000053.4(ATP7B):c.3237T>A (p.Cys1079Ter) rs1957506216
NM_000053.4(ATP7B):c.3265G>T (p.Gly1089Ter)
NM_000053.4(ATP7B):c.3312C>A (p.Cys1104Ter)
NM_000053.4(ATP7B):c.3313A>T (p.Lys1105Ter) rs1957395448
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala) rs1566462533
NM_000053.4(ATP7B):c.3463_3464del (p.Arg1155fs)
NM_000053.4(ATP7B):c.3523A>T (p.Lys1175Ter) rs995516204
NM_000053.4(ATP7B):c.3583_3584del (p.Ala1195fs)
NM_000053.4(ATP7B):c.3707del (p.Ile1236fs)
NM_000053.4(ATP7B):c.3741_3742del (p.His1247fs)
NM_000053.4(ATP7B):c.3757C>T (p.Gln1253Ter)
NM_000053.4(ATP7B):c.3782_3791del (p.Lys1261fs)
NM_000053.4(ATP7B):c.3935_3936del (p.His1312fs)
NM_000053.4(ATP7B):c.413T>A (p.Leu138Ter)
NM_000053.4(ATP7B):c.416dup (p.Ala140fs)
NM_000053.4(ATP7B):c.482_483delinsA (p.Ile161fs)
NM_000053.4(ATP7B):c.505C>T (p.Gln169Ter) rs1952020122
NM_000053.4(ATP7B):c.531_535del (p.Leu178fs)
NM_000053.4(ATP7B):c.533_534del (p.Leu178fs)
NM_000053.4(ATP7B):c.590_591del (p.Leu197fs)
NM_000053.4(ATP7B):c.763dup (p.His255fs)
NM_000053.4(ATP7B):c.782_783del (p.Leu261fs)
NM_000053.4(ATP7B):c.86G>A (p.Trp29Ter) rs577406734
NM_015506.3(MMACHC):c.143_146del (p.Leu48fs)
NM_015506.3(MMACHC):c.51del (p.Pro18fs)
NM_015506.3(MMACHC):c.619dup (p.Asp207fs) rs765913293
NM_015506.3(MMACHC):c.70del (p.Tyr24fs)
NM_015506.3(MMACHC):c.97G>T (p.Glu33Ter)
NM_172250.3(MMAA):c.420_422delinsTGTGATT (p.Lys140fs)
NM_172250.3(MMAA):c.490G>T (p.Gly164Ter)
NM_172250.3(MMAA):c.493A>T (p.Lys165Ter)
NM_172250.3(MMAA):c.496del (p.Met166fs)
NM_172250.3(MMAA):c.523dup (p.Ser175fs)
NM_172250.3(MMAA):c.552T>A (p.Cys184Ter) rs1727814966
NM_172250.3(MMAA):c.601_602del (p.Ser201fs)
NM_172250.3(MMAA):c.636delinsAGG (p.Thr213fs)
NM_172250.3(MMAA):c.708T>A (p.Tyr236Ter)
NM_172250.3(MMAA):c.785T>A (p.Leu262Ter)

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