ClinVar Miner

List of variants studied for mucolipidosis type II by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 118
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HGVS dbSNP gnomAD frequency
NM_024312.5(GNPTAB):c.3135+5T>C rs759935 0.60955
NM_024312.5(GNPTAB):c.1932A>G (p.Thr644=) rs10778148 0.58708
NM_024312.5(GNPTAB):c.18G>A (p.Leu6=) rs4764655 0.09551
NM_024312.5(GNPTAB):c.*1195A>C rs112815421 0.07590
NM_024312.5(GNPTAB):c.*323T>C rs75757716 0.03440
NM_024312.5(GNPTAB):c.*43C>T rs79089208 0.03438
NM_024312.5(GNPTAB):c.*814T>G rs7974637 0.03436
NM_024312.5(GNPTAB):c.*1457A>G rs10219650 0.03091
NM_024312.5(GNPTAB):c.3602+8C>A rs79493678 0.02992
NM_024312.5(GNPTAB):c.1931C>T (p.Thr644Ile) rs76889468 0.02262
NM_024312.5(GNPTAB):c.3693+10A>T rs76021817 0.02246
NM_024312.5(GNPTAB):c.1482G>A (p.Gln494=) rs11111008 0.01428
NM_024312.5(GNPTAB):c.204-15G>T rs10860787 0.01423
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu) rs7958709 0.01289
NM_024312.5(GNPTAB):c.*1240T>C rs146119768 0.01250
NM_024312.5(GNPTAB):c.-145G>A rs544455347 0.01236
NM_024312.5(GNPTAB):c.*143G>A rs76267316 0.01208
NM_024312.5(GNPTAB):c.*612T>C rs57261919 0.01208
NM_024312.5(GNPTAB):c.2611G>A (p.Gly871Ser) rs56212569 0.01207
NM_024312.5(GNPTAB):c.136C>A (p.Arg46=) rs78347057 0.01017
NM_024312.5(GNPTAB):c.3197C>T (p.Thr1066Met) rs34083392 0.00720
NM_024312.5(GNPTAB):c.137G>A (p.Arg46Gln) rs117566084 0.00508
NM_024312.5(GNPTAB):c.1626A>G (p.Glu542=) rs61745799 0.00448
NM_024312.5(GNPTAB):c.*839C>T rs191482020 0.00347
NM_024312.5(GNPTAB):c.*1632del rs370646056 0.00334
NM_024312.5(GNPTAB):c.*646G>T rs182829610 0.00309
NM_024312.5(GNPTAB):c.*1390G>C rs143769734 0.00290
NM_024312.5(GNPTAB):c.571+12T>C rs112056979 0.00227
NM_024312.5(GNPTAB):c.*1109G>T rs186237335 0.00148
NM_024312.5(GNPTAB):c.2481C>T (p.Gly827=) rs3751249 0.00083
NM_024312.5(GNPTAB):c.3516T>C (p.Tyr1172=) rs201592854 0.00079
NM_024312.5(GNPTAB):c.-33C>T rs372860805 0.00060
NM_024312.5(GNPTAB):c.174C>T (p.Asp58=) rs148948607 0.00058
NM_024312.5(GNPTAB):c.1826C>A (p.Thr609Asn) rs138811990 0.00054
NM_024312.5(GNPTAB):c.500T>A (p.Ile167Asn) rs143907628 0.00049
NM_024312.5(GNPTAB):c.3598G>A (p.Glu1200Lys) rs137853825 0.00043
NM_024312.5(GNPTAB):c.2625G>A (p.Val875=) rs141529327 0.00042
NM_024312.5(GNPTAB):c.3335+14G>A rs141927805 0.00041
NM_024312.5(GNPTAB):c.1269C>T (p.His423=) rs111863978 0.00036
NM_024312.5(GNPTAB):c.348G>A (p.Thr116=) rs145244231 0.00034
NM_024312.5(GNPTAB):c.*1464A>G rs180899224 0.00031
NM_024312.5(GNPTAB):c.2341G>A (p.Val781Met) rs183435240 0.00029
NM_024312.5(GNPTAB):c.*1160G>A rs543036320 0.00025
NM_024312.5(GNPTAB):c.1429T>G (p.Tyr477Asp) rs145586576 0.00025
NM_024312.5(GNPTAB):c.1862A>G (p.Asn621Ser) rs146476305 0.00025
NM_024312.5(GNPTAB):c.70T>G (p.Phe24Val) rs141329633 0.00022
NM_024312.5(GNPTAB):c.1433T>C (p.Ile478Thr) rs149718548 0.00021
NM_024312.5(GNPTAB):c.3216A>G (p.Pro1072=) rs61935741 0.00019
NM_024312.5(GNPTAB):c.1750C>A (p.Pro584Thr) rs201829728 0.00018
NM_024312.5(GNPTAB):c.3710G>A (p.Arg1237Gln) rs150841760 0.00016
NM_024312.5(GNPTAB):c.2028G>A (p.Pro676=) rs192607073 0.00012
NM_024312.5(GNPTAB):c.3335+11C>G rs191087950 0.00012
NM_024312.5(GNPTAB):c.*739T>C rs111500504 0.00011
NM_024312.5(GNPTAB):c.1774G>A (p.Ala592Thr) rs149390820 0.00006
NM_024312.5(GNPTAB):c.*436G>A rs886048846 0.00004
NM_024312.5(GNPTAB):c.*478C>T rs962503597 0.00004
NM_024312.5(GNPTAB):c.1800C>T (p.Leu600=) rs534858651 0.00004
NM_024312.5(GNPTAB):c.203G>A (p.Arg68Gln) rs145725972 0.00004
NM_024312.5(GNPTAB):c.*103G>A rs1024195463 0.00003
NM_024312.5(GNPTAB):c.54T>C (p.Tyr18=) rs749134354 0.00003
NM_024312.5(GNPTAB):c.*1233T>G rs886048841 0.00002
NM_024312.5(GNPTAB):c.1023A>G (p.Pro341=) rs750876420 0.00002
NM_024312.5(GNPTAB):c.1113+12T>G rs757949849 0.00002
NM_024312.5(GNPTAB):c.3194T>C (p.Ile1065Thr) rs755148701 0.00002
NM_024312.5(GNPTAB):c.512C>T (p.Ala171Val) rs746860631 0.00002
NM_024312.5(GNPTAB):c.513A>G (p.Ala171=) rs371813268 0.00002
NM_024312.5(GNPTAB):c.*1093C>G rs886048842 0.00001
NM_024312.5(GNPTAB):c.*1550C>A rs1455978047 0.00001
NM_024312.5(GNPTAB):c.*557A>T rs1329590638 0.00001
NM_024312.5(GNPTAB):c.*63C>T rs867058692 0.00001
NM_024312.5(GNPTAB):c.*911A>G rs1165242829 0.00001
NM_024312.5(GNPTAB):c.1114-14G>A rs776493814 0.00001
NM_024312.5(GNPTAB):c.2665T>C (p.Leu889=) rs139215843 0.00001
NM_024312.5(GNPTAB):c.3250-12A>G rs745938838 0.00001
NM_024312.5(GNPTAB):c.3286C>T (p.Pro1096Ser) rs765553769 0.00001
NM_024312.5(GNPTAB):c.3306C>G (p.His1102Gln) rs886048850 0.00001
NM_024312.5(GNPTAB):c.3435G>A (p.Arg1145=) rs1451696033 0.00001
NM_024312.5(GNPTAB):c.3693G>C (p.Gln1231His) rs886048849 0.00001
NM_024312.5(GNPTAB):c.386T>C (p.Leu129Ser) rs1868637420 0.00001
NM_024312.5(GNPTAB):c.42G>C (p.Leu14=) rs376257286 0.00001
NM_024312.5(GNPTAB):c.578A>G (p.Asp193Gly) rs935456185 0.00001
NM_024312.5(GNPTAB):c.609C>G (p.Ser203Arg) rs529994474 0.00001
NM_024312.5(GNPTAB):c.863T>C (p.Met288Thr) rs753544044 0.00001
NM_024312.5(GNPTAB):c.866C>G (p.Thr289Ser) rs138289260 0.00001
NM_024312.5(GNPTAB):c.*1033C>G rs868403966
NM_024312.5(GNPTAB):c.*1109GTT[8] rs371050894
NM_024312.5(GNPTAB):c.*1243C>T rs953067777
NM_024312.5(GNPTAB):c.*1370C>T rs1952724925
NM_024312.5(GNPTAB):c.*419del rs768136710
NM_024312.5(GNPTAB):c.*419dup rs768136710
NM_024312.5(GNPTAB):c.*51A>C rs886048848
NM_024312.5(GNPTAB):c.*558del rs886048845
NM_024312.5(GNPTAB):c.*842T>G rs886048844
NM_024312.5(GNPTAB):c.*888AG[3] rs59855215
NM_024312.5(GNPTAB):c.*920G>A rs886048843
NM_024312.5(GNPTAB):c.-157C>A rs140600142
NM_024312.5(GNPTAB):c.-62GGC[7] rs76300806
NM_024312.5(GNPTAB):c.-94C>T rs1871335232
NM_024312.5(GNPTAB):c.1155A>C (p.Ser385=) rs754258764
NM_024312.5(GNPTAB):c.117+15C>T rs886048854
NM_024312.5(GNPTAB):c.1427G>C (p.Arg476Pro) rs1224060861
NM_024312.5(GNPTAB):c.1613-3T>C rs1303293752
NM_024312.5(GNPTAB):c.2166C>T (p.Asp722=) rs952078439
NM_024312.5(GNPTAB):c.2225A>G (p.Asn742Ser) rs886048851
NM_024312.5(GNPTAB):c.2499A>G (p.Glu833=) rs77410031
NM_024312.5(GNPTAB):c.2728T>C (p.Leu910=) rs1953000723
NM_024312.5(GNPTAB):c.27G>A (p.Gln9=) rs222504
NM_024312.5(GNPTAB):c.2904A>C (p.Glu968Asp) rs555336070
NM_024312.5(GNPTAB):c.30C>G (p.Thr10=) rs1871323193
NM_024312.5(GNPTAB):c.3115G>C (p.Glu1039Gln) rs201356176
NM_024312.5(GNPTAB):c.3250-8T>C rs1952924076
NM_024312.5(GNPTAB):c.3758G>A (p.Arg1253Gln) rs778120023
NM_024312.5(GNPTAB):c.381G>A (p.Glu127=) rs1185319004
NM_024312.5(GNPTAB):c.457G>A (p.Asp153Asn) rs886048853
NM_024312.5(GNPTAB):c.630C>T (p.Gly210=) rs886038684
NM_024312.5(GNPTAB):c.703C>G (p.Pro235Ala) rs886048852
NM_024312.5(GNPTAB):c.772-7T>G rs1953168565
NM_024312.5(GNPTAB):c.805C>G (p.Leu269Val) rs1953167968

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