ClinVar Miner

List of variants reported as likely pathogenic for Menkes disease

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 95
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HGVS dbSNP gnomAD frequency
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687 0.00046
NC_000023.10:g.(77284942_77286897)_(77289271_77294333)del
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.1329del (p.Leu444fs) rs2149083474
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.1544-2A>T rs2077751404
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.1885G>C (p.Ala629Pro) rs72554639
NM_000052.7(ATP7A):c.1924_1925del (p.Asp642fs)
NM_000052.7(ATP7A):c.1924del (p.Asp642fs)
NM_000052.7(ATP7A):c.1996G>A (p.Gly666Arg) rs797045344
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.2172+5G>A rs797045347
NM_000052.7(ATP7A):c.2172+5G>C rs797045347
NM_000052.7(ATP7A):c.2172G>T (p.Gln724His) rs797045348
NM_000052.7(ATP7A):c.2183G>A (p.Gly728Asp) rs797045350
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.2498+2T>G rs797045357
NM_000052.7(ATP7A):c.256_262del (p.Asp86fs)
NM_000052.7(ATP7A):c.2750T>A (p.Val917Asp) rs797045362
NM_000052.7(ATP7A):c.2773_2781+4del
NM_000052.7(ATP7A):c.2781G>C (p.Lys927Asn) rs797045363
NM_000052.7(ATP7A):c.2836_2837del (p.Val946fs) rs1603387278
NM_000052.7(ATP7A):c.2916+3_2916+6del rs797045364
NM_000052.7(ATP7A):c.293T>A (p.Leu98Ter)
NM_000052.7(ATP7A):c.2953del (p.Ile985fs)
NM_000052.7(ATP7A):c.3002C>T (p.Pro1001Leu) rs797045365
NM_000052.7(ATP7A):c.3013G>T (p.Gly1005Ter)
NM_000052.7(ATP7A):c.3049G>A (p.Gly1017Arg) rs1557236754
NM_000052.7(ATP7A):c.3081del (p.Gly1028fs)
NM_000052.7(ATP7A):c.3111+1G>A rs1557236762
NM_000052.7(ATP7A):c.3137C>T (p.Thr1046Ile) rs1064796648
NM_000052.7(ATP7A):c.3140G>A (p.Gly1047Glu) rs1557237050
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.3294+1G>T rs797045374
NM_000052.7(ATP7A):c.3352G>T (p.Gly1118Cys) rs797045376
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.3800A>T (p.Gln1267Leu) rs797045385
NM_000052.7(ATP7A):c.3801+4A>G rs797045387
NM_000052.7(ATP7A):c.380_381del (p.Val127fs)
NM_000052.7(ATP7A):c.3853A>T (p.Lys1285Ter)
NM_000052.7(ATP7A):c.3913G>A (p.Asp1305Asn) rs1603391127
NM_000052.7(ATP7A):c.4005+1G>T rs797045391
NM_000052.7(ATP7A):c.4005+5G>A
NM_000052.7(ATP7A):c.4006-1G>A rs1557238665
NM_000052.7(ATP7A):c.4040T>A (p.Leu1347Ter)
NM_000052.7(ATP7A):c.4043C>A (p.Ser1348Ter)
NM_000052.7(ATP7A):c.4123G>A (p.Gly1375Arg) rs797045394
NM_000052.7(ATP7A):c.412C>T (p.Gln138Ter)
NM_000052.7(ATP7A):c.4168T>C (p.Ser1390Pro)
NM_000052.7(ATP7A):c.4187C>T (p.Ser1396Leu) rs797045396
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.610+2T>C
NM_000052.7(ATP7A):c.611-1G>C
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)

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