ClinVar Miner

List of variants in gene ELP4, PAX6 studied for chromosomal disorder

Included ClinVar conditions (201):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_019040.5(ELP4):c.*3208C>T rs608293 0.88020
NM_019040.5(ELP4):c.*3514_*3517dup rs397795797 0.87931
NM_019040.5(ELP4):c.*5226T>A rs1506 0.72043
NM_019040.5(ELP4):c.*2452C>T rs3026401 0.70691
NM_019040.5(ELP4):c.*4250C>T rs12421026 0.42881
NM_019040.5(ELP4):c.*3703G>A rs3026398 0.22983
NM_019040.5(ELP4):c.*3998C>T rs662702 0.14929
NM_019040.5(ELP4):c.*2114C>G rs16922475 0.05615
NM_019040.5(ELP4):c.*3509A>G rs542906080 0.04927
NM_019040.5(ELP4):c.*2673_*2674del rs141022497 0.02792
NM_019040.5(ELP4):c.*4105C>T rs73477656 0.02650
NM_001368894.2(PAX6):c.*842G>A rs115045926 0.01172
NM_001368894.2(PAX6):c.*356T>A rs774392481 0.00945
NM_019040.5(ELP4):c.*3851C>T rs141344418 0.00935
NM_019040.5(ELP4):c.*3994C>A rs79739975 0.00857
NM_019040.5(ELP4):c.*3425C>T rs3026399 0.00813
NM_001368894.2(PAX6):c.*417C>T rs55756603 0.00810
NM_019040.5(ELP4):c.*4172A>C rs73477658 0.00701
NM_019040.5(ELP4):c.*2740G>A rs149777109 0.00394
NM_019040.5(ELP4):c.*3242G>A rs187705792 0.00303
NM_019040.5(ELP4):c.*3713A>T rs138881442 0.00236
NM_019040.5(ELP4):c.*5347T>C rs117590302 0.00220
NM_019040.5(ELP4):c.*4932G>A rs181818313 0.00198
NM_019040.5(ELP4):c.*2040G>C rs183115097 0.00194
NM_001368894.2(PAX6):c.*357A>T rs774473337 0.00189
NM_019040.5(ELP4):c.*3904G>A rs3026397 0.00189
NM_019040.5(ELP4):c.*4974C>T rs138035131 0.00148
NM_019040.5(ELP4):c.*1302T>C rs146579778 0.00120
NM_019040.5(ELP4):c.*2525C>A rs183433948 0.00096
NM_019040.5(ELP4):c.*2982G>A rs191399467 0.00076
NM_001368894.2(PAX6):c.*891G>A rs530259403 0.00065
NM_019040.5(ELP4):c.*3528A>G rs143185259 0.00060
NM_019040.5(ELP4):c.*3523del rs886048188 0.00050
NM_001368894.2(PAX6):c.*841C>T rs530931929 0.00031
NM_019040.5(ELP4):c.*5016T>G rs776894983 0.00031
NM_019040.5(ELP4):c.*1783T>G rs140971065 0.00030
NM_001368894.2(PAX6):c.*335T>C rs766518284 0.00020
NM_019040.5(ELP4):c.*3433G>T rs192709453 0.00019
NM_019040.5(ELP4):c.*3383C>T rs541022955 0.00017
NM_019040.5(ELP4):c.*4806T>A rs189545730 0.00011
NM_019040.5(ELP4):c.*5123T>A rs576321279 0.00008
NM_019040.5(ELP4):c.*2502G>A rs886048185 0.00007
NM_019040.5(ELP4):c.*3092T>C rs371438311 0.00006
NM_019040.5(ELP4):c.*2664G>A rs567720234 0.00005
NM_019040.5(ELP4):c.*1877A>G rs745626044 0.00003
NM_019040.5(ELP4):c.*3504T>C rs886048187 0.00003
NM_019040.5(ELP4):c.*3920C>T rs886048191 0.00003
NM_019040.5(ELP4):c.*1714C>G rs180780893 0.00002
NM_001368894.2(PAX6):c.*207G>A rs886048199 0.00001
NM_001368894.2(PAX6):c.*226T>C rs753595935 0.00001
NM_019040.5(ELP4):c.*3859G>A rs886048190 0.00001
NM_019040.5(ELP4):c.*4023C>A rs886048194 0.00001
NM_019040.5(ELP4):c.*4889G>A rs886048196 0.00001
NM_019040.5(ELP4):c.*5357A>G rs886048197 0.00001
NM_019040.5(ELP4):c.*5471T>C rs886048198 0.00001
GRCh37/hg19 11p13(chr11:31541617-31813509)
NM_001368894.2(PAX6):c.*107G>C rs886048201
NM_001368894.2(PAX6):c.*183dup rs886048200
NM_001368894.2(PAX6):c.*356del rs200391530
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu) rs121907922
NM_019040.5(ELP4):c.*1489_*1491delinsCATTTCTTTTAATCTGTG rs886048180
NM_019040.5(ELP4):c.*1811A>C rs185968715
NM_019040.5(ELP4):c.*2049A>G rs886048181
NM_019040.5(ELP4):c.*2282G>A rs886048182
NM_019040.5(ELP4):c.*2334T>G rs886048183
NM_019040.5(ELP4):c.*2407C>A rs886048184
NM_019040.5(ELP4):c.*2710CA[2] rs886048186
NM_019040.5(ELP4):c.*3164_*3165insAAAA rs34919147
NM_019040.5(ELP4):c.*3703_*3705del rs886048189
NM_019040.5(ELP4):c.*3978T>C rs886048192
NM_019040.5(ELP4):c.*4017A>G rs886048193
NM_019040.5(ELP4):c.*4025C>G rs886048195
NM_019040.5(ELP4):c.*4251G>A rs3026396

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