ClinVar Miner

List of variants in gene SNAP29 reported as uncertain significance for CEDNIK syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 100
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HGVS dbSNP gnomAD frequency
NM_004782.4(SNAP29):c.*2111G>T rs551094177 0.00257
NM_004782.4(SNAP29):c.*2412C>T rs528779987 0.00229
NM_004782.4(SNAP29):c.*2501G>A rs112984030 0.00171
NM_004782.4(SNAP29):c.*519A>T rs200263284 0.00167
NM_004782.4(SNAP29):c.*255G>A rs187586025 0.00158
NM_004782.4(SNAP29):c.-76G>A rs376809644 0.00129
NM_004782.4(SNAP29):c.*61C>G rs539155980 0.00109
NM_004782.4(SNAP29):c.*242G>A rs538225254 0.00088
NM_004782.4(SNAP29):c.*2777G>A rs374333957 0.00087
NM_004782.4(SNAP29):c.*840G>C rs554942555 0.00081
NM_004782.4(SNAP29):c.*1543A>C rs9613204 0.00064
NM_004782.4(SNAP29):c.*2179G>A rs553271593 0.00064
NM_004782.4(SNAP29):c.*1570T>C rs534348201 0.00053
NM_004782.4(SNAP29):c.*2028G>A rs563529946 0.00053
NM_004782.4(SNAP29):c.*1315C>G rs41277337 0.00051
NM_004782.4(SNAP29):c.*3014C>T rs767162203 0.00045
NM_004782.4(SNAP29):c.*1589T>C rs530035476 0.00036
NM_004782.4(SNAP29):c.*2678T>C rs537067283 0.00034
NM_004782.4(SNAP29):c.*2749A>G rs1333759236 0.00034
NM_004782.4(SNAP29):c.*3233A>G rs191082970 0.00033
NM_004782.4(SNAP29):c.*2052A>T rs74557072 0.00029
NM_004782.4(SNAP29):c.*822C>T rs769097170 0.00029
NM_004782.4(SNAP29):c.*1675C>T rs944104520 0.00024
NM_004782.4(SNAP29):c.*2039T>G rs746231023 0.00022
NM_004782.4(SNAP29):c.*6G>A rs370326257 0.00019
NM_004782.4(SNAP29):c.*2912G>A rs886057276 0.00017
NM_004782.4(SNAP29):c.*3107C>T rs886057279 0.00013
NM_004782.4(SNAP29):c.*3193G>A rs553460221 0.00013
NM_004782.4(SNAP29):c.*991C>A rs868124207 0.00013
NM_004782.4(SNAP29):c.*1061C>T rs557600796 0.00007
NM_004782.4(SNAP29):c.*624C>T rs372543595 0.00005
NM_004782.4(SNAP29):c.580C>T (p.His194Tyr) rs766339332 0.00005
NM_004782.4(SNAP29):c.*210A>C rs1015563368 0.00004
NM_004782.4(SNAP29):c.*2280G>A rs543535379 0.00004
NM_004782.4(SNAP29):c.*2364A>G rs1342371584 0.00004
NM_004782.4(SNAP29):c.*3156G>A rs1243774895 0.00004
NM_004782.4(SNAP29):c.*496C>G rs1389874859 0.00003
NM_004782.4(SNAP29):c.607G>A (p.Asp203Asn) rs752535047 0.00003
NM_004782.4(SNAP29):c.643C>T (p.Arg215Cys) rs371123997 0.00003
NM_004782.4(SNAP29):c.*2712G>A rs1158159445 0.00002
NM_004782.4(SNAP29):c.*3268T>C rs1055312902 0.00002
NM_004782.4(SNAP29):c.*3284G>T rs948903807 0.00002
NM_004782.4(SNAP29):c.*507A>C rs1929072766 0.00002
NM_004782.4(SNAP29):c.*1437T>C rs1356926944 0.00001
NM_004782.4(SNAP29):c.*2059C>T rs186489004 0.00001
NM_004782.4(SNAP29):c.*2168A>C rs886057273 0.00001
NM_004782.4(SNAP29):c.*3171G>A rs886057280 0.00001
NM_004782.4(SNAP29):c.*3283T>G rs916175198 0.00001
NM_004782.4(SNAP29):c.*816C>T rs886057271 0.00001
NM_004782.4(SNAP29):c.-40T>G rs886057263 0.00001
NM_004782.4(SNAP29):c.238-12C>T rs373576052 0.00001
NM_004782.4(SNAP29):c.240G>A (p.Glu80=) rs528593119 0.00001
NM_004782.4(SNAP29):c.518C>G (p.Thr173Arg) rs775814400 0.00001
NM_004782.4(SNAP29):c.550A>G (p.Met184Val) rs770234475 0.00001
NM_004782.4(SNAP29):c.620-6C>G rs1397535065 0.00001
NM_004782.4(SNAP29):c.6A>G (p.Ser2=) rs770386845 0.00001
NM_004782.4(SNAP29):c.*1174C>T rs1929090760
NM_004782.4(SNAP29):c.*1438G>A rs1929095759
NM_004782.4(SNAP29):c.*1789C>A rs756339493
NM_004782.4(SNAP29):c.*1874A>C rs1929105241
NM_004782.4(SNAP29):c.*2121dup rs886057272
NM_004782.4(SNAP29):c.*2171T>C rs1929111441
NM_004782.4(SNAP29):c.*2261G>A rs165744
NM_004782.4(SNAP29):c.*2304C>T rs886057274
NM_004782.4(SNAP29):c.*240C>T rs886057265
NM_004782.4(SNAP29):c.*2484G>C rs367880062
NM_004782.4(SNAP29):c.*2564dup rs886057275
NM_004782.4(SNAP29):c.*267C>T rs913695397
NM_004782.4(SNAP29):c.*2738G>A rs1358798270
NM_004782.4(SNAP29):c.*2868A>G rs1929130514
NM_004782.4(SNAP29):c.*2937_*2944del rs361606
NM_004782.4(SNAP29):c.*2944A>G rs1185035865
NM_004782.4(SNAP29):c.*2944del rs361606
NM_004782.4(SNAP29):c.*3035C>T rs886057278
NM_004782.4(SNAP29):c.*472_*483delinsT rs1555915252
NM_004782.4(SNAP29):c.*477AC[20] rs575240461
NM_004782.4(SNAP29):c.*477AC[21] rs575240461
NM_004782.4(SNAP29):c.*477AC[23] rs575240461
NM_004782.4(SNAP29):c.*477AC[24] rs575240461
NM_004782.4(SNAP29):c.*505_*522del rs368659383
NM_004782.4(SNAP29):c.*513_*522del rs771299879
NM_004782.4(SNAP29):c.*515_*522del rs371833796
NM_004782.4(SNAP29):c.*517_*522del rs376990505
NM_004782.4(SNAP29):c.*519_*522del rs747974281
NM_004782.4(SNAP29):c.*590T>C rs1929076871
NM_004782.4(SNAP29):c.*780G>T rs543150102
NM_004782.4(SNAP29):c.*948G>A rs1929085665
NM_004782.4(SNAP29):c.-58C>A rs552560669
NM_004782.4(SNAP29):c.-60G>A rs59194912
NM_004782.4(SNAP29):c.-70_-69del rs886057262
NM_004782.4(SNAP29):c.-93G>T rs534931954
NM_004782.4(SNAP29):c.199A>G (p.Met67Val) rs1198217173
NM_004782.4(SNAP29):c.237+10G>T rs745946295
NM_004782.4(SNAP29):c.354dup (p.Leu119fs) rs751575036
NM_004782.4(SNAP29):c.37G>T (p.Asp13Tyr) rs749686029
NM_004782.4(SNAP29):c.435-3A>G rs1928878744
NM_004782.4(SNAP29):c.502A>G (p.Arg168Gly) rs886057264
NM_004782.4(SNAP29):c.520+14T>C rs1928882519
NM_004782.4(SNAP29):c.620-4G>A rs199538534
NM_004782.4(SNAP29):c.697A>G (p.Ile233Val) rs1929053710

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