ClinVar Miner

List of variants reported as likely benign for nutritional disorder by Illumina Laboratory Services, Illumina

Included ClinVar conditions (116):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 236
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000230.3(LEP):c.-39G>A rs2167270 0.37538
NM_000439.5(PCSK1):c.*1041T>A rs17085675 0.31161
NM_000439.5(PCSK1):c.*1530T>C rs2882298 0.30559
NM_000439.5(PCSK1):c.1993C>G (p.Gln665Glu) rs6234 0.23916
NM_002303.6(LEPR):c.1029T>C (p.Ser343=) rs1805134 0.23693
NM_000355.3(TCN2):c.-250C>T rs5753231 0.14215
NM_138711.6(PPARG):c.1341C>T (p.His447=) rs3856806 0.11181
NM_000230.3(LEP):c.*2205G>A rs41457646 0.10795
NM_000230.3(LEP):c.*400G>T rs17151922 0.09344
NM_138711.6(PPARG):c.-8-28078C>G rs1801282 0.08816
NM_052845.4(MMAB):c.*1409G>A rs72650177 0.05424
NM_002299.4(LCT):c.1650C>G (p.Gly550=) rs35093754 0.05209
NM_000439.5(PCSK1):c.612C>T (p.Asn204=) rs6231 0.04494
NM_000376.3(VDR):c.*437C>G rs11574119 0.03464
NM_000376.3(VDR):c.*562A>C rs3858733 0.03190
NM_000376.3(VDR):c.*2974A>T rs11574139 0.03175
NM_172250.3(MMAA):c.*3285G>A rs142885287 0.03017
NM_000230.3(LEP):c.*1243A>G rs6966536 0.02955
NM_172250.3(MMAA):c.*2364A>G rs13129907 0.02803
NM_000230.3(LEP):c.280G>A (p.Val94Met) rs17151919 0.02565
NM_000376.3(VDR):c.*1281G>A rs7967673 0.02377
NM_000376.3(VDR):c.*1242A>G rs7954412 0.02375
NM_000376.3(VDR):c.*2827A>G rs11574138 0.02365
NM_000785.4(CYP27B1):c.942G>A (p.Leu314=) rs8176345 0.02124
NM_000376.3(VDR):c.*408T>C rs112308011 0.01929
NM_002303.6(LEPR):c.2597+15G>C rs6693573 0.01870
NM_002299.4(LCT):c.2714A>G (p.Asp905Gly) rs115690016 0.01755
NM_001370658.1(BTD):c.-94C>T rs114567021 0.01730
NM_000334.4(SCN4A):c.*1677_*1678insAT rs397797581 0.01652
NM_002303.6(LEPR):c.3024A>G (p.Ser1008=) rs6413506 0.01632
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met) rs80338952 0.01562
NM_000376.3(VDR):c.*2593A>G rs11168263 0.01497
NM_000376.3(VDR):c.*409G>A rs11574118 0.01495
NM_000785.4(CYP27B1):c.*415G>A rs8176351 0.01487
NM_002303.6(LEPR):c.*232G>A rs116819844 0.01407
NM_001081.4(CUBN):c.9565A>G (p.Ile3189Val) rs111265129 0.01345
NM_002299.4(LCT):c.454G>A (p.Ala152Thr) rs114525655 0.01314
NM_001352514.2(HLCS):c.*1744G>A rs117270429 0.01206
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361 0.01187
NM_002299.4(LCT):c.*429A>C rs77631953 0.01053
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr) rs41280102 0.01003
NM_000355.4(TCN2):c.*300T>G rs187942607 0.00942
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884 0.00873
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) rs52820871 0.00774
NM_001352514.2(HLCS):c.*2624G>A rs73210780 0.00769
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn) rs61750442 0.00751
NM_002299.4(LCT):c.4777G>A (p.Val1593Met) rs35891837 0.00726
NM_005068.3(SIM1):c.*937C>A rs41318037 0.00670
NM_002303.6(LEPR):c.2958C>T (p.Tyr986=) rs1805095 0.00643
NM_000376.3(VDR):c.444C>T (p.Ser148=) rs2229828 0.00638
NM_138711.6(PPARG):c.1281A>G (p.Ser427=) rs41516544 0.00627
NM_017526.5(LEPROT):c.21C>T (p.Leu7=) rs13306523 0.00623
NM_015702.3(MMADHC):c.473G>A (p.Arg158Gln) rs114276563 0.00611
NM_001182.5(ALDH7A1):c.*2387A>G rs116566135 0.00607
NM_001081.4(CUBN):c.7365T>A (p.Asp2455Glu) rs117128556 0.00569
NM_000939.4(POMC):c.18C>T (p.Cys6=) rs8192605 0.00562
NM_018129.4(PNPO):c.*1151C>T rs145323612 0.00560
NM_000069.3(CACNA1S):c.252C>T (p.Leu84=) rs112868209 0.00555
NM_000939.4(POMC):c.641A>G (p.Glu214Gly) rs80326661 0.00552
NM_001081.4(CUBN):c.6469A>G (p.Asn2157Asp) rs144360241 0.00541
NM_001352514.2(HLCS):c.331-7157C>T rs149104163 0.00524
NM_001182.5(ALDH7A1):c.*325A>G rs55923017 0.00504
NM_001182.5(ALDH7A1):c.1009-6G>A rs138056453 0.00500
NM_000069.3(CACNA1S):c.2745+14C>T rs74138824 0.00464
NM_001081.4(CUBN):c.2756A>G (p.His919Arg) rs148869805 0.00464
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684 0.00449
NM_001352514.2(HLCS):c.*1725A>G rs73398120 0.00399
NM_001352514.2(HLCS):c.*3247A>G rs114061673 0.00386
NM_001081.4(CUBN):c.9125A>G (p.Asn3042Ser) rs142581908 0.00371
NM_001081.4(CUBN):c.10383C>T (p.Ser3461=) rs141937843 0.00363
NM_001081.4(CUBN):c.1794C>T (p.Tyr598=) rs140184467 0.00358
NM_001182.5(ALDH7A1):c.*690T>C rs139905907 0.00352
NM_001352514.2(HLCS):c.1002C>T (p.Ala334=) rs116114362 0.00352
NM_000069.3(CACNA1S):c.-60A>G rs145803564 0.00349
NM_000355.4(TCN2):c.877C>T (p.Leu293=) rs45624233 0.00347
NM_000939.4(POMC):c.261C>A (p.Phe87Leu) rs199636726 0.00346
NM_018129.4(PNPO):c.*958G>T rs189494213 0.00336
NM_001081.4(CUBN):c.*769G>A rs149618660 0.00335
NM_005068.3(SIM1):c.2100C>G (p.Gly700=) rs77655804 0.00331
NM_000355.4(TCN2):c.360G>A (p.Arg120=) rs115272037 0.00321
NM_018129.3(PNPO):c.-115G>A rs116464338 0.00316
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys) rs149736764 0.00315
NM_001081.4(CUBN):c.10267G>A (p.Val3423Ile) rs145872906 0.00305
NM_001081.4(CUBN):c.5680A>G (p.Ile1894Val) rs76789390 0.00304
NM_015702.3(MMADHC):c.-8C>T rs180812156 0.00282
NM_172250.3(MMAA):c.597G>A (p.Glu199=) rs116773849 0.00262
NM_000939.4(POMC):c.346C>T (p.Leu116=) rs34650613 0.00259
NM_001352514.2(HLCS):c.*19C>T rs137949852 0.00259
NM_000334.4(SCN4A):c.*1324T>C rs544883913 0.00256
NM_001081.4(CUBN):c.2656G>A (p.Glu886Lys) rs138545198 0.00253
NM_138711.6(PPARG):c.1362C>T (p.Ile454=) rs149367249 0.00250
NM_052845.4(MMAB):c.*2186T>C rs147647465 0.00246
NM_001081.4(CUBN):c.1470G>A (p.Pro490=) rs143255616 0.00243
NM_052845.4(MMAB):c.*404T>G rs148289390 0.00240
NM_018129.4(PNPO):c.*756T>C rs566414102 0.00228
NM_001081.4(CUBN):c.2182T>C (p.Phe728Leu) rs147752521 0.00217
NM_001081.4(CUBN):c.1530+12A>C rs138936163 0.00212
NM_000355.4(TCN2):c.554C>T (p.Pro185Leu) rs146009793 0.00196
NM_001081.4(CUBN):c.1681G>A (p.Asp561Asn) rs147449194 0.00181
NM_000939.4(POMC):c.158A>G (p.Asp53Gly) rs28932470 0.00173
NM_016729.3(FOLR1):c.508G>A (p.Ala170Thr) rs139633601 0.00172
NM_001182.5(ALDH7A1):c.*1209G>A rs555172968 0.00171
NM_000069.3(CACNA1S):c.4686T>C (p.Ile1562=) rs138423302 0.00170
NM_001081.4(CUBN):c.8968G>A (p.Val2990Ile) rs115888073 0.00169
NM_005068.3(SIM1):c.2292C>T (p.Asn764=) rs143803280 0.00162
NM_001081.4(CUBN):c.4200C>T (p.Gly1400=) rs150663813 0.00159
NM_001081.4(CUBN):c.5069C>T (p.Ala1690Val) rs141640975 0.00155
NM_000355.4(TCN2):c.623G>A (p.Arg208His) rs150472705 0.00154
NM_138711.6(PPARG):c.150C>T (p.Asp50=) rs112174008 0.00154
NM_018129.4(PNPO):c.*272T>G rs189065288 0.00150
NM_000785.4(CYP27B1):c.*77G>A rs8176350 0.00137
NM_000355.4(TCN2):c.523G>A (p.Val175Met) rs142791153 0.00134
NM_001182.4(ALDH7A1):c.-29T>C rs556650006 0.00100
NM_000939.4(POMC):c.662A>G (p.Tyr221Cys) rs149540566 0.00096
NM_005068.3(SIM1):c.1082C>T (p.Thr361Ile) rs145479047 0.00089
NM_001081.4(CUBN):c.1951C>G (p.Arg651Gly) rs182512508 0.00086
NM_005142.3(CBLIF):c.1138G>A (p.Val380Ile) rs144070828 0.00082
NM_000069.3(CACNA1S):c.2601C>T (p.Tyr867=) rs34374418 0.00076
NM_172250.3(MMAA):c.*1952T>C rs79927727 0.00074
NM_005912.3(MC4R):c.468G>A (p.Gln156=) rs144393256 0.00060
NM_001081.4(CUBN):c.2016G>A (p.Pro672=) rs148107237 0.00052
NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser) rs138607412 0.00051
NM_000069.3(CACNA1S):c.-4A>G rs200408018 0.00050
NM_172250.3(MMAA):c.*3254A>C rs539831571 0.00048
NM_000334.4(SCN4A):c.2697G>A (p.Leu899=) rs199827271 0.00044
NM_000069.3(CACNA1S):c.*104T>C rs186777514 0.00041
NM_001081.4(CUBN):c.6089G>A (p.Arg2030Gln) rs143400113 0.00041
NM_005068.3(SIM1):c.*183A>T rs145341368 0.00034
NM_016729.3(FOLR1):c.396G>A (p.Val132=) rs35179028 0.00033
NM_000355.4(TCN2):c.509G>A (p.Arg170Gln) rs117353193 0.00032
NM_001081.4(CUBN):c.5207C>T (p.Ser1736Leu) rs191787640 0.00027
NM_000069.3(CACNA1S):c.*163G>A rs200126670 0.00026
NM_000069.3(CACNA1S):c.4747G>A (p.Glu1583Lys) rs148273582 0.00026
NM_001081.4(CUBN):c.1811C>T (p.Pro604Leu) rs200537125 0.00026
NM_000069.3(CACNA1S):c.2657+9C>T rs375784883 0.00025
NM_001182.5(ALDH7A1):c.*2603G>A rs74415886 0.00025
NM_000355.4(TCN2):c.501C>T (p.His167=) rs144652799 0.00024
NM_001352514.2(HLCS):c.*1324T>C rs141644229 0.00024
NM_000069.3(CACNA1S):c.1670G>A (p.Arg557His) rs4915212 0.00022
NM_000069.3(CACNA1S):c.1890G>A (p.Pro630=) rs141717649 0.00022
NM_000334.4(SCN4A):c.1281C>T (p.Phe427=) rs369445518 0.00019
NM_001081.4(CUBN):c.5926+5G>A rs143301088 0.00019
NM_000069.3(CACNA1S):c.1745G>C (p.Gly582Ala) rs377459546 0.00018
NM_000069.3(CACNA1S):c.1458G>A (p.Leu486=) rs528563981 0.00016
NM_005068.3(SIM1):c.1236C>A (p.Thr412=) rs200106103 0.00016
NM_018368.4(LMBRD1):c.1192T>C (p.Tyr398His) rs185334169 0.00016
NM_000376.3(VDR):c.1206C>A (p.Arg402=) rs2229829 0.00014
NM_001081.4(CUBN):c.*266C>T rs374059721 0.00014
NM_001081.4(CUBN):c.2138C>T (p.Thr713Met) rs141420691 0.00014
NM_001081.4(CUBN):c.2922C>T (p.Phe974=) rs201802902 0.00014
NM_000069.3(CACNA1S):c.1945A>C (p.Asn649His) rs760246258 0.00013
NM_000069.3(CACNA1S):c.5008T>A (p.Tyr1670Asn) rs146696748 0.00013
NM_000334.4(SCN4A):c.4083C>A (p.Ile1361=) rs374480468 0.00011
NM_000355.4(TCN2):c.547G>A (p.Val183Met) rs201925682 0.00011
NM_001081.4(CUBN):c.5148C>T (p.Phe1716=) rs370581324 0.00011
NM_000334.4(SCN4A):c.4644C>T (p.Ser1548=) rs751973449 0.00010
NM_000334.4(SCN4A):c.5401G>A (p.Ala1801Thr) rs201192904 0.00010
NM_001081.4(CUBN):c.10759G>A (p.Gly3587Arg) rs201484266 0.00010
NM_000069.3(CACNA1S):c.1592G>A (p.Arg531His) rs748711395 0.00009
NM_000069.3(CACNA1S):c.3657C>T (p.Cys1219=) rs376781102 0.00009
NM_000069.3(CACNA1S):c.3904C>T (p.Arg1302Trp) rs780390034 0.00009
NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp) rs759982229 0.00009
NM_000334.4(SCN4A):c.4282A>G (p.Ile1428Val) rs368822028 0.00009
NM_000334.4(SCN4A):c.4886C>T (p.Pro1629Leu) rs202102815 0.00009
NM_000069.3(CACNA1S):c.3027G>A (p.Thr1009=) rs371818752 0.00007
NM_000334.4(SCN4A):c.5404G>A (p.Gly1802Arg) rs267604988 0.00007
NM_018368.4(LMBRD1):c.636+14G>T rs376670737 0.00007
NM_000069.3(CACNA1S):c.1385G>A (p.Arg462His) rs146696298 0.00006
NM_000069.3(CACNA1S):c.1885G>A (p.Gly629Arg) rs147888089 0.00006
NM_000334.4(SCN4A):c.-4G>A rs565414568 0.00006
NM_000334.4(SCN4A):c.1354G>A (p.Glu452Lys) rs372631097 0.00006
NM_000334.4(SCN4A):c.45G>A (p.Glu15=) rs763166498 0.00006
NM_000069.3(CACNA1S):c.1352C>T (p.Ser451Leu) rs35521793 0.00005
NM_000069.2(CACNA1S):c.-140C>T rs547864807 0.00004
NM_000069.3(CACNA1S):c.1678G>A (p.Ala560Thr) rs763794604 0.00004
NM_000069.3(CACNA1S):c.3090C>T (p.Asp1030=) rs766639108 0.00004
NM_000069.3(CACNA1S):c.4882C>T (p.Leu1628Phe) rs200848930 0.00004
NM_000069.3(CACNA1S):c.598G>A (p.Ala200Thr) rs527702358 0.00004
NM_000069.3(CACNA1S):c.889G>A (p.Val297Ile) rs138205421 0.00004
NM_000069.3(CACNA1S):c.898T>C (p.Trp300Arg) rs370325121 0.00004
NM_000334.4(SCN4A):c.2256C>T (p.Leu752=) rs375596512 0.00004
NM_000334.4(SCN4A):c.4289-4G>A rs750364111 0.00004
NM_000334.4(SCN4A):c.5205G>C (p.Gln1735His) rs199944673 0.00004
NM_001352514.2(HLCS):c.2583C>T (p.Phe861=) rs532108774 0.00004
NM_000069.3(CACNA1S):c.915C>T (p.Ile305=) rs376517944 0.00003
NM_000334.4(SCN4A):c.*670T>G rs148552329 0.00003
NM_000334.4(SCN4A):c.1995G>T (p.Leu665=) rs189925781 0.00003
NM_001081.4(CUBN):c.*380T>C rs188873973 0.00003
NM_000069.3(CACNA1S):c.1591C>T (p.Arg531Cys) rs751671175 0.00002
NM_000069.3(CACNA1S):c.1637G>A (p.Ser546Asn) rs373525085 0.00002
NM_000334.4(SCN4A):c.2778C>T (p.Ile926=) rs769634298 0.00002
NM_000334.4(SCN4A):c.4052C>T (p.Thr1351Met) rs545724550 0.00002
NM_000069.3(CACNA1S):c.2931C>T (p.Asp977=) rs374912997 0.00001
NM_000069.3(CACNA1S):c.3538G>A (p.Asp1180Asn) rs775845281 0.00001
NM_000069.3(CACNA1S):c.3663C>T (p.Asn1221=) rs773738696 0.00001
NM_000334.4(SCN4A):c.1594G>A (p.Asp532Asn) rs747479565 0.00001
NM_000334.4(SCN4A):c.3019G>A (p.Val1007Met) rs781028684 0.00001
NM_000334.4(SCN4A):c.3604G>A (p.Glu1202Lys) rs201916531 0.00001
NM_000334.4(SCN4A):c.4667A>G (p.Asn1556Ser) rs751454852 0.00001
NM_000334.4(SCN4A):c.4783G>A (p.Ala1595Thr) rs761947899 0.00001
NM_000334.4(SCN4A):c.5000C>T (p.Pro1667Leu) rs765721076 0.00001
NM_016729.3(FOLR1):c.261C>T (p.Asn87=) rs375444839 0.00001
NM_138711.6(PPARG):c.-8-28133C>T rs200479885 0.00001
NM_000069.2(CACNA1S):c.-110C>T rs529955487
NM_000069.2(CACNA1S):c.-213G>A rs536755317
NM_000069.3(CACNA1S):c.1047C>T (p.Thr349=) rs542505383
NM_000069.3(CACNA1S):c.1813A>G (p.Ile605Val) rs550246898
NM_000069.3(CACNA1S):c.4350C>G (p.Gly1450=) rs761794209
NM_000230.3(LEP):c.*2595C>A rs28959475
NM_000230.3(LEP):c.*2820_*2822dup rs56247456
NM_000334.4(SCN4A):c.2593G>C (p.Gly865Arg) rs752159625
NM_000334.4(SCN4A):c.3062G>A (p.Arg1021His) rs770497876
NM_000334.4(SCN4A):c.483-9C>A rs201552497
NM_000334.4(SCN4A):c.5284G>A (p.Gly1762Arg) rs763493738
NM_000355.4(TCN2):c.*209G>C rs146450057
NM_000355.4(TCN2):c.*313dup rs397940476
NM_000370.3(TTPA):c.*932G>A rs547975805
NM_000439.5(PCSK1):c.*737_*739dup rs5869716
NM_000439.5(PCSK1):c.*826del rs34572181
NM_000939.4(POMC):c.280AGCAGCGGC[3] (p.94SSG[3]) rs10654394
NM_001081.4(CUBN):c.*330G>A rs181630914
NM_001081.4(CUBN):c.*330G>C rs181630914
NM_001081.4(CUBN):c.*420C>T rs182278265
NM_001081.4(CUBN):c.6276C>T (p.Cys2092=) rs146319349
NM_001352514.2(HLCS):c.*1589CAAA[2] rs201997019
NM_001352514.2(HLCS):c.1620+7del rs140568778
NM_002299.4(LCT):c.*442GT[1] rs140433552
NM_002299.4(LCT):c.318C>T (p.Asp106=) rs34307240
NM_002299.4(LCT):c.5768C>A (p.Pro1923Gln) rs114828879
NM_002299.4(LCT):c.729C>G (p.Val243=) rs3816088
NM_002303.6(LEPR):c.*60_*61insCTTTA rs75054066
NM_005068.3(SIM1):c.*1132A>C rs74728933
NM_015702.3(MMADHC):c.-145A>G rs12477482
NM_018129.3(PNPO):c.*2535_*2539delCAACC rs144540976
NM_018129.4(PNPO):c.*301C>A rs540606185
NM_018368.4(LMBRD1):c.-88C>G rs557851763

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