ClinVar Miner

List of variants reported as uncertain significance for SMARCB1-deficient kidney medullary carcinoma by Illumina Laboratory Services, Illumina

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_001368894.2(PAX6):c.*356T>A rs774392481 0.00945
NM_001368894.2(PAX6):c.*357A>T rs774473337 0.00189
NM_000280.4(PAX6):c.*2887delG rs886048188 0.00050
NM_000280.4(PAX6):c.*3694A>G rs549835579 0.00041
NM_000280.4(PAX6):c.*1394A>C rs776894983 0.00031
NM_000280.4(PAX6):c.*1839T>C rs1029065786 0.00024
NM_001368894.2(PAX6):c.985T>C (p.Leu329=) rs373147550 0.00024
NM_000280.4(PAX6):c.*4023G>A rs990066045 0.00020
NM_001368894.2(PAX6):c.*335T>C rs766518284 0.00020
NM_000280.4(PAX6):c.*3027G>A rs541022955 0.00017
NM_000280.4(PAX6):c.*1604A>T rs189545730 0.00011
NM_000280.4(PAX6):c.*2087C>A rs923696320 0.00011
NM_000280.4(PAX6):c.*1287A>T rs576321279 0.00008
NM_000280.4(PAX6):c.*3565A>G rs1006923180 0.00008
NM_000280.4(PAX6):c.*3908C>T rs886048185 0.00007
NM_000280.4(PAX6):c.*1969A>G rs1452069622 0.00006
NM_001368894.2(PAX6):c.*90A>C rs572377074 0.00006
NM_001368894.2(PAX6):c.-368G>A rs886048206 0.00006
NM_000280.4(PAX6):c.*3203A>G rs1010978990 0.00004
NM_000280.4(PAX6):c.*2490G>A rs886048191 0.00003
NM_000280.4(PAX6):c.*2906A>G rs886048187 0.00003
NM_000280.4(PAX6):c.*3107C>T rs994285025 0.00003
NM_000280.4(PAX6):c.*4533T>C rs745626044 0.00003
NM_001368894.2(PAX6):c.-430G>C rs886048207 0.00002
NM_000280.4(PAX6):c.*1053T>C rs886048197 0.00001
NM_000280.4(PAX6):c.*1521C>T rs886048196 0.00001
NM_000280.4(PAX6):c.*2387G>T rs886048194 0.00001
NM_000280.4(PAX6):c.*2551C>T rs886048190 0.00001
NM_000280.4(PAX6):c.*5006C>G rs748381549 0.00001
NM_000280.4(PAX6):c.*939A>G rs886048198 0.00001
NM_001368894.2(PAX6):c.*207G>A rs886048199 0.00001
NM_001368894.2(PAX6):c.*226T>C rs753595935 0.00001
NM_001368894.2(PAX6):c.*272T>G rs934715799 0.00001
NM_001368894.2(PAX6):c.*626G>C rs1250874661 0.00001
NM_001368894.2(PAX6):c.-59G>T rs886048204 0.00001
NM_001368894.2(PAX6):c.560C>T (p.Thr187Met) rs1159095794 0.00001
NM_001368894.2(PAX6):c.992G>A (p.Arg331Gln) rs75572362 0.00001
NM_000280.4(PAX6):c.*1868C>A rs1948792866
NM_000280.4(PAX6):c.*2159C>T rs3026396
NM_000280.4(PAX6):c.*2354C>T rs1948752515
NM_000280.4(PAX6):c.*2385G>C rs886048195
NM_000280.4(PAX6):c.*2393T>C rs886048193
NM_000280.4(PAX6):c.*2432A>G rs886048192
NM_000280.4(PAX6):c.*2638C>G rs865924000
NM_000280.4(PAX6):c.*2695A>T rs558836571
NM_000280.4(PAX6):c.*2704A>T rs1948715280
NM_000280.4(PAX6):c.*2705_*2707delAGC rs886048189
NM_000280.4(PAX6):c.*2822T>C rs906435505
NM_000280.4(PAX6):c.*3418C>T rs1948639449
NM_000280.4(PAX6):c.*3700_*3701delGT rs886048186
NM_000280.4(PAX6):c.*3888C>A rs1948594512
NM_000280.4(PAX6):c.*4003G>T rs886048184
NM_000280.4(PAX6):c.*4076A>C rs886048183
NM_000280.4(PAX6):c.*4128C>T rs886048182
NM_000280.4(PAX6):c.*4361T>C rs886048181
NM_000280.4(PAX6):c.*4369G>C rs544117348
NM_000280.4(PAX6):c.*4784C>T rs1269133831
NM_000280.4(PAX6):c.*4795T>G rs1171230486
NM_000280.4(PAX6):c.*4919_*4921delATTinsCACAGATTAAAAGAAATG rs886048180
NM_001368894.2(PAX6):c.*107G>C rs886048201
NM_001368894.2(PAX6):c.*183dup rs886048200
NM_001368894.2(PAX6):c.*247T>A rs1468270124
NM_001368894.2(PAX6):c.*356del rs200391530
NM_001368894.2(PAX6):c.-147_-146dup rs886048205
NM_001368894.2(PAX6):c.-167G>T rs1956928845
NM_001368894.2(PAX6):c.-501del rs886048208
NM_001368894.2(PAX6):c.-507T>C rs886048209
NM_001368894.2(PAX6):c.184-8C>T rs886048203
NM_001368894.2(PAX6):c.219G>A (p.Arg73=) rs1953969921
NM_001368894.2(PAX6):c.453G>A (p.Met151Ile) rs371018133
NM_001368894.2(PAX6):c.511G>A (p.Gly171Ser) rs1953501315
NM_001368894.2(PAX6):c.589G>C (p.Gly197Arg) rs886048202
NM_001368894.2(PAX6):c.690C>T (p.Ser230=) rs373715028
NM_001368894.2(PAX6):c.81G>A (p.Gln27=) rs1954524676
NM_001368894.2(PAX6):c.885A>G (p.Thr295=) rs1592415376

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