ClinVar Miner

List of variants studied for Menkes disease by Natera, Inc.

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 119
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HGVS dbSNP gnomAD frequency
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu) rs2227291 0.24533
NM_000052.7(ATP7A):c.327G>A (p.Lys109=) rs61747968 0.00978
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val) rs143907597 0.00750
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val) rs2228447 0.00731
NM_000052.7(ATP7A):c.610+8G>A rs144616937 0.00506
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu) rs5959130 0.00500
NM_000052.7(ATP7A):c.1823A>G (p.Tyr608Cys) rs61742278 0.00380
NM_000052.7(ATP7A):c.3589A>G (p.Asn1197Asp) rs148765730 0.00280
NM_000052.7(ATP7A):c.1768A>G (p.Arg590Gly) rs146887876 0.00117
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln) rs143214563 0.00089
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp) rs146651049 0.00082
NM_000052.7(ATP7A):c.3475A>G (p.Thr1159Ala) rs138154934 0.00078
NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val) rs2234938 0.00066
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=) rs146692150 0.00060
NM_000052.7(ATP7A):c.4389T>C (p.Ser1463=) rs371939448 0.00037
NM_000052.7(ATP7A):c.282G>A (p.Ala94=) rs370700841 0.00027
NM_000052.7(ATP7A):c.2131G>A (p.Val711Ile) rs782268170 0.00025
NM_000052.7(ATP7A):c.1510G>A (p.Ala504Thr) rs781786942 0.00024
NM_000052.7(ATP7A):c.2607A>G (p.Val869=) rs61053012 0.00020
NM_000052.7(ATP7A):c.3883C>T (p.Arg1295Trp) rs372489000 0.00018
NM_000052.7(ATP7A):c.312A>G (p.Gln104=) rs146414063 0.00014
NM_000052.7(ATP7A):c.278C>T (p.Thr93Met) rs539177302 0.00012
NM_000052.7(ATP7A):c.3210C>T (p.His1070=) rs185917115 0.00012
NM_000052.7(ATP7A):c.1000G>A (p.Ala334Thr) rs368622356 0.00010
NM_000052.7(ATP7A):c.1677T>G (p.Ala559=) rs149841982 0.00006
NM_000052.7(ATP7A):c.1020G>A (p.Pro340=) rs372232940 0.00005
NM_000052.7(ATP7A):c.1721C>T (p.Thr574Met) rs782076879 0.00005
NM_000052.7(ATP7A):c.1722G>A (p.Thr574=) rs207478437 0.00005
NM_000052.7(ATP7A):c.2673T>G (p.Ala891=) rs782154912 0.00005
NM_000052.7(ATP7A):c.314G>A (p.Ser105Asn) rs782475540 0.00005
NM_000052.7(ATP7A):c.3480G>A (p.Ser1160=) rs144293453 0.00005
NM_000052.7(ATP7A):c.4246G>A (p.Glu1416Lys) rs781970260 0.00005
NM_000052.7(ATP7A):c.475G>A (p.Ala159Thr) rs188836609 0.00005
NM_000052.7(ATP7A):c.2499-7T>C rs782260332 0.00004
NM_000052.7(ATP7A):c.3863A>G (p.Gln1288Arg) rs375788705 0.00004
NM_000052.7(ATP7A):c.729G>A (p.Lys243=) rs782326318 0.00004
NM_000052.7(ATP7A):c.1379A>G (p.Glu460Gly) rs1557232788 0.00003
NM_000052.7(ATP7A):c.1386G>A (p.Pro462=) rs1297787618 0.00003
NM_000052.7(ATP7A):c.1427C>T (p.Thr476Ile) rs782702847 0.00003
NM_000052.7(ATP7A):c.1561G>A (p.Val521Met) rs139902461 0.00003
NM_000052.7(ATP7A):c.1734C>T (p.Cys578=) rs72554638 0.00003
NM_000052.7(ATP7A):c.4073A>G (p.Asn1358Ser) rs1423719687 0.00003
NM_000052.7(ATP7A):c.4244A>G (p.Tyr1415Cys) rs1280037924 0.00003
NM_000052.7(ATP7A):c.4369G>T (p.Val1457Phe) rs1189381967 0.00003
NM_000052.7(ATP7A):c.4424A>G (p.Asn1475Ser) rs782774219 0.00003
NM_000052.7(ATP7A):c.1019C>T (p.Pro340Leu) rs1557231845 0.00002
NM_000052.7(ATP7A):c.119A>C (p.Lys40Thr) rs1557229686 0.00002
NM_000052.7(ATP7A):c.1375T>C (p.Ser459Pro) rs374530062 0.00002
NM_000052.7(ATP7A):c.1543+9C>G rs367977602 0.00002
NM_000052.7(ATP7A):c.1974G>C (p.Leu658=) rs781957241 0.00002
NM_000052.7(ATP7A):c.2225A>G (p.Lys742Arg) rs782664014 0.00002
NM_000052.7(ATP7A):c.2710G>A (p.Ala904Thr) rs1427317043 0.00002
NM_000052.7(ATP7A):c.2725G>A (p.Ala909Thr) rs146119866 0.00002
NM_000052.7(ATP7A):c.317C>T (p.Thr106Ile) rs782647620 0.00002
NM_000052.7(ATP7A):c.3587A>G (p.Asn1196Ser) rs782250966 0.00002
NM_000052.7(ATP7A):c.3592G>A (p.Asp1198Asn) rs1374099672 0.00002
NM_000052.7(ATP7A):c.3736A>G (p.Met1246Val) rs1385333276 0.00002
NM_000052.7(ATP7A):c.4245C>T (p.Tyr1415=) rs782346811 0.00002
NM_000052.7(ATP7A):c.4356G>C (p.Leu1452Phe) rs782364202 0.00002
NM_000052.7(ATP7A):c.705A>C (p.Pro235=) rs199608277 0.00002
NM_000052.7(ATP7A):c.1040T>C (p.Ile347Thr) rs368982547 0.00001
NM_000052.7(ATP7A):c.1152T>C (p.Asp384=) rs147225045 0.00001
NM_000052.7(ATP7A):c.1224A>G (p.Ile408Met) rs373634671 0.00001
NM_000052.7(ATP7A):c.1327A>G (p.Thr443Ala) rs1227094533 0.00001
NM_000052.7(ATP7A):c.1384C>G (p.Pro462Ala) rs781964005 0.00001
NM_000052.7(ATP7A):c.1487G>C (p.Gly496Ala) rs1193696385 0.00001
NM_000052.7(ATP7A):c.1558C>T (p.Leu520Phe) rs1331470313 0.00001
NM_000052.7(ATP7A):c.1574C>G (p.Ala525Gly) rs368355216 0.00001
NM_000052.7(ATP7A):c.1850A>G (p.Asp617Gly) rs782528311 0.00001
NM_000052.7(ATP7A):c.1947-5A>G rs1557234466 0.00001
NM_000052.7(ATP7A):c.2039C>T (p.Thr680Ile) rs782455461 0.00001
NM_000052.7(ATP7A):c.2108G>A (p.Arg703His) rs2234936 0.00001
NM_000052.7(ATP7A):c.2279A>G (p.Tyr760Cys) rs782006661 0.00001
NM_000052.7(ATP7A):c.2437A>G (p.Ile813Val) rs1557234931 0.00001
NM_000052.7(ATP7A):c.2780A>G (p.Lys927Arg) rs1557235625 0.00001
NM_000052.7(ATP7A):c.2924A>G (p.Asn975Ser) rs1557236698 0.00001
NM_000052.7(ATP7A):c.3028A>G (p.Thr1010Ala) rs782480109 0.00001
NM_000052.7(ATP7A):c.3070A>G (p.Ile1024Val) rs1341604631 0.00001
NM_000052.7(ATP7A):c.3174A>G (p.Gln1058=) rs1057518370 0.00001
NM_000052.7(ATP7A):c.3455C>T (p.Ala1152Val) rs371409820 0.00001
NM_000052.7(ATP7A):c.3553C>T (p.Arg1185Trp) rs781907456 0.00001
NM_000052.7(ATP7A):c.3696G>A (p.Val1232=) rs1557238252 0.00001
NM_000052.7(ATP7A):c.3776A>T (p.Lys1259Ile) rs962646396 0.00001
NM_000052.7(ATP7A):c.3957C>T (p.Gly1319=) rs1271447006 0.00001
NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp) rs370736173 0.00001
NM_000052.7(ATP7A):c.4212T>C (p.Ser1404=) rs2078077936 0.00001
NM_000052.7(ATP7A):c.4268G>A (p.Arg1423Gln) rs368091927 0.00001
NM_000052.7(ATP7A):c.4415G>A (p.Arg1472His) rs1204475767 0.00001
NM_000052.7(ATP7A):c.4497A>C (p.Ala1499=) rs782053901 0.00001
NM_000052.7(ATP7A):c.470C>T (p.Ser157Leu) rs782716555 0.00001
NM_000052.7(ATP7A):c.514G>A (p.Val172Met) rs782248978 0.00001
NM_000052.7(ATP7A):c.556A>C (p.Thr186Pro) rs1557231656 0.00001
NM_000052.7(ATP7A):c.1597A>G (p.Asn533Asp) rs1057524455
NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter) rs797045332
NM_000052.7(ATP7A):c.1788C>A (p.Ser596=) rs368747913
NM_000052.7(ATP7A):c.1810G>A (p.Ala604Thr) rs2149093552
NM_000052.7(ATP7A):c.1835T>G (p.Ile612Ser) rs1569549840
NM_000052.7(ATP7A):c.1906C>T (p.Arg636Trp) rs1057523112
NM_000052.7(ATP7A):c.1931A>G (p.Lys644Arg) rs781900997
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter) rs72554640
NM_000052.7(ATP7A):c.2158T>G (p.Cys720Gly) rs1569549892
NM_000052.7(ATP7A):c.2365G>T (p.Val789Leu) rs781834675
NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter) rs72554645
NM_000052.7(ATP7A):c.2406+6G>A rs782307719
NM_000052.7(ATP7A):c.278C>G (p.Thr93Arg) rs539177302
NM_000052.7(ATP7A):c.2815G>A (p.Gly939Ser) rs1569550056
NM_000052.7(ATP7A):c.2977A>G (p.Ile993Val) rs1353488746
NM_000052.7(ATP7A):c.3055G>A (p.Gly1019Ser) rs2077968146
NM_000052.7(ATP7A):c.3153C>A (p.His1051Gln) rs142998552
NM_000052.7(ATP7A):c.3326T>C (p.Ile1109Thr) rs2149107157
NM_000052.7(ATP7A):c.3461A>G (p.Asn1154Ser) rs1288867080
NM_000052.7(ATP7A):c.373G>T (p.Val125Leu) rs782688596
NM_000052.7(ATP7A):c.3788C>G (p.Ser1263Cys) rs372066609
NM_000052.7(ATP7A):c.3883C>A (p.Arg1295=) rs372489000
NM_000052.7(ATP7A):c.4102G>A (p.Val1368Ile) rs782483019
NM_000052.7(ATP7A):c.4267C>T (p.Arg1423Trp) rs149079962
NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter) rs151340633
NM_000052.7(ATP7A):c.92G>A (p.Gly31Glu) rs1569549378
NM_000052.7(ATP7A):c.94A>C (p.Lys32Gln) rs2077548318

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