ClinVar Miner

List of variants reported as benign for cutis laxa by Illumina Laboratory Services, Illumina

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 205
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HGVS dbSNP gnomAD frequency
NM_016938.5(EFEMP2):c.775A>G (p.Ile259Val) rs601314 0.89787
NM_006329.4(FBLN5):c.945T>C (p.Ile315=) rs2430347 0.76291
NM_012463.4(ATP6V0A2):c.1515T>C (p.Asn505=) rs7135542 0.71178
NM_012463.4(ATP6V0A2):c.*1693C>G rs10846553 0.70431
NM_012463.4(ATP6V0A2):c.426T>C (p.Asn142=) rs1139789 0.66312
NM_012463.4(ATP6V0A2):c.471T>C (p.Ser157=) rs1399961 0.66054
NM_012463.4(ATP6V0A2):c.432+14C>T rs11837144 0.65907
NM_016938.5(EFEMP2):c.-58G>A rs2303384 0.61477
NM_012463.4(ATP6V0A2):c.*1128T>C rs10744162 0.53964
NM_152281.3(GORAB):c.883G>A (p.Glu295Lys) rs913257 0.52780
NM_012463.4(ATP6V0A2):c.*3425G>A rs2333834 0.52752
NM_001042545.2(LTBP4):c.379G>A (p.Val127Ile) rs2303729 0.50929
NM_001042545.2(LTBP4):c.2158A>G (p.Thr720Ala) rs1131620 0.47295
NM_001042545.2(LTBP4):c.2257A>G (p.Thr753Ala) rs1051303 0.47266
NM_002860.4(ALDH18A1):c.*155G>A rs1053905 0.42481
NM_030777.4(SLC2A10):c.*2176T>C rs1059217 0.40292
NM_030777.4(SLC2A10):c.*2285T>G rs1136540 0.40283
NM_016938.5(EFEMP2):c.276C>T (p.His92=) rs633800 0.39212
NM_002860.4(ALDH18A1):c.2206+15G>A rs10882640 0.39029
NM_030777.4(SLC2A10):c.*2365T>A rs1136544 0.38922
NM_030777.4(SLC2A10):c.*1293T>C rs707507 0.38336
NM_012463.4(ATP6V0A2):c.-14C>T rs1139320 0.36505
NM_152281.3(GORAB):c.*1064T>A rs6427262 0.31948
NM_000501.4(ELN):c.*501_*502insA rs34208922 0.30369
NM_002860.4(ALDH18A1):c.*699C>T rs4037 0.28027
NM_002860.4(ALDH18A1):c.*412T>C rs8758 0.27959
NM_006329.4(FBLN5):c.-414C>T rs7149187 0.26340
NM_001042545.2(LTBP4):c.*20G>A rs1051481 0.17303
NM_152281.3(GORAB):c.*47T>G rs7552922 0.15016
NM_000501.4(ELN):c.*1194A>G rs10233395 0.12697
NM_030777.4(SLC2A10):c.616G>A (p.Ala206Thr) rs2235491 0.12316
NM_002860.4(ALDH18A1):c.896C>T (p.Thr299Ile) rs2275272 0.10214
NM_012463.4(ATP6V0A2):c.*3553G>A rs73420351 0.09739
NM_006907.4(PYCR1):c.576T>C (p.Gly192=) rs872029 0.07170
NM_030777.4(SLC2A10):c.1541A>G (p.Lys514Arg) rs41283344 0.06229
NM_152281.3(GORAB):c.*1065A>T rs12063774 0.05681
NM_152281.3(GORAB):c.*884C>A rs76753490 0.05650
NM_152281.3(GORAB):c.*883G>A rs76509176 0.05649
NM_003573.2(LTBP4):c.2144-11C>A rs41470347 0.05552
NM_012463.4(ATP6V0A2):c.*3603G>A rs73420352 0.05364
NM_012463.4(ATP6V0A2):c.*574C>T rs112521789 0.05337
NM_001042545.2(LTBP4):c.1300T>A (p.Ser434Thr) rs34545902 0.04499
NM_012463.4(ATP6V0A2):c.*3227C>G rs111540619 0.04290
NM_002860.4(ALDH18A1):c.-79A>G rs117502632 0.03469
NM_002860.4(ALDH18A1):c.1770C>T (p.Ser590=) rs11541780 0.03433
NM_001042545.2(LTBP4):c.1702C>G (p.Arg568Gly) rs33937741 0.02986
NM_002860.4(ALDH18A1):c.1977C>T (p.Ser659=) rs1804934 0.02975
NM_030777.4(SLC2A10):c.1552A>G (p.Thr518Ala) rs6018008 0.02748
NM_012463.4(ATP6V0A2):c.2438C>T (p.Ala813Val) rs17883456 0.02527
NM_001042545.2(LTBP4):c.1834C>G (p.Pro612Ala) rs34299942 0.02447
NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg) rs79134187 0.02323
NM_012463.4(ATP6V0A2):c.*1600G>A rs58028686 0.02320
NM_000501.4(ELN):c.2086+5G>C rs111866046 0.02303
NM_002860.4(ALDH18A1):c.1029T>C (p.Ile343=) rs41291566 0.02201
NM_012463.4(ATP6V0A2):c.*2877T>A rs77765053 0.02183
NM_012463.4(ATP6V0A2):c.*2357C>T rs117222175 0.02177
NM_030777.4(SLC2A10):c.1609A>G (p.Ile537Val) rs7348121 0.02113
NM_030777.4(SLC2A10):c.*56A>G rs112821000 0.02108
NM_006329.4(FBLN5):c.*623A>T rs77357345 0.02046
NM_012463.4(ATP6V0A2):c.*3235A>G rs7310965 0.02017
NM_152281.3(GORAB):c.62-3T>C rs73029138 0.01889
NM_030777.4(SLC2A10):c.1154C>G (p.Ala385Gly) rs79849424 0.01835
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His) rs74922060 0.01800
NM_006329.4(FBLN5):c.*514A>G rs17804735 0.01698
NM_006329.4(FBLN5):c.1122C>T (p.Tyr374=) rs145515678 0.01635
NM_012463.4(ATP6V0A2):c.*1205C>G rs6488903 0.01582
NM_002860.4(ALDH18A1):c.1115C>A (p.Ser372Tyr) rs3765571 0.01418
NM_030777.4(SLC2A10):c.*143G>A rs35691491 0.01384
NM_006329.4(FBLN5):c.989+13G>A rs74071605 0.01368
NM_030777.4(SLC2A10):c.*280C>T rs6018009 0.01365
NM_030777.4(SLC2A10):c.*334A>G rs6018010 0.01363
NM_006329.4(FBLN5):c.863-13C>T rs74071606 0.01336
NM_012463.4(ATP6V0A2):c.1039-14T>C rs115569365 0.01308
NM_030777.4(SLC2A10):c.-27C>T rs149481442 0.01295
NM_002860.4(ALDH18A1):c.*611G>A rs41291562 0.01242
NM_006329.4(FBLN5):c.*326G>A rs79375113 0.01197
NM_006329.4(FBLN5):c.*329T>C rs115237925 0.01197
NM_012463.4(ATP6V0A2):c.*2646A>G rs77292614 0.01186
NM_012463.4(ATP6V0A2):c.2549A>G (p.Asn850Ser) rs75279884 0.01166
NM_012463.4(ATP6V0A2):c.1606-12G>A rs112415338 0.01148
NM_001042545.2(LTBP4):c.1125G>A (p.Arg375=) rs41354044 0.01103
NM_012463.4(ATP6V0A2):c.*3654A>G rs77670478 0.01086
NM_012463.4(ATP6V0A2):c.*1731C>T rs114514797 0.01081
NM_012463.4(ATP6V0A2):c.*2329G>A rs113118376 0.01080
NM_152281.3(GORAB):c.657C>T (p.Tyr219=) rs76365864 0.00986
NM_006907.4(PYCR1):c.*272G>A rs3744807 0.00977
NM_001042545.2(LTBP4):c.2175C>T (p.Cys725=) rs141810975 0.00961
NM_012463.4(ATP6V0A2):c.777G>A (p.Arg259=) rs73420336 0.00931
NM_001042545.2(LTBP4):c.1968C>T (p.Pro656=) rs140927310 0.00894
NM_016938.5(EFEMP2):c.*403C>G rs77540033 0.00883
NM_030777.4(SLC2A10):c.*1100T>G rs6094450 0.00880
NM_001042545.2(LTBP4):c.2812+6C>T rs190107102 0.00874
NM_030777.4(SLC2A10):c.1288+10G>A rs76315093 0.00869
NM_030777.4(SLC2A10):c.*50T>C rs36103903 0.00858
NM_006907.4(PYCR1):c.894C>T (p.Thr298=) rs35589179 0.00828
NM_000501.4(ELN):c.*383T>G rs184490734 0.00783
NM_012463.4(ATP6V0A2):c.*1645G>A rs74994957 0.00766
NM_001042545.2(LTBP4):c.2053G>A (p.Asp685Asn) rs34093919 0.00763
NM_000501.3(ELN):c.-38C>T rs41410045 0.00756
NM_152281.3(GORAB):c.*534T>C rs41272499 0.00754
NM_012463.4(ATP6V0A2):c.*1064G>A rs7980215 0.00751
NM_012463.4(ATP6V0A2):c.*1837T>C rs115183932 0.00749
NM_012463.4(ATP6V0A2):c.*3357G>C rs7297473 0.00748
NM_030777.4(SLC2A10):c.*478G>A rs113058599 0.00747
NM_030777.4(SLC2A10):c.*32T>C rs78864327 0.00746
NM_006907.4(PYCR1):c.*68C>T rs113083225 0.00744
NM_030777.4(SLC2A10):c.*513T>C rs111352987 0.00743
NM_012463.4(ATP6V0A2):c.*2710G>A rs145999411 0.00742
NM_030777.4(SLC2A10):c.*641G>A rs113629687 0.00741
NM_012463.4(ATP6V0A2):c.2054G>A (p.Arg685Gln) rs7969410 0.00727
NM_000501.4(ELN):c.*548G>A rs117454480 0.00696
NM_006907.4(PYCR1):c.540+11C>T rs149159844 0.00674
NM_012463.4(ATP6V0A2):c.1872G>A (p.Leu624=) rs73420342 0.00672
NM_012463.4(ATP6V0A2):c.117+14G>A rs144930749 0.00652
NM_030777.4(SLC2A10):c.*809C>T rs114681513 0.00646
NM_012463.4(ATP6V0A2):c.*3000G>A rs183891010 0.00622
NM_002860.4(ALDH18A1):c.*140C>T rs76824727 0.00570
NM_030777.4(SLC2A10):c.*958C>T rs189464814 0.00562
NM_002860.4(ALDH18A1):c.*56T>A rs114393346 0.00549
NM_006329.4(FBLN5):c.*423T>C rs17731705 0.00543
NM_001042545.2(LTBP4):c.1441A>G (p.Met481Val) rs116005784 0.00542
NM_001042545.2(LTBP4):c.891C>T (p.Gly297=) rs374427407 0.00535
NM_152281.3(GORAB):c.618C>T (p.Leu206=) rs35872826 0.00535
NM_030777.4(SLC2A10):c.1617G>A (p.Ala539=) rs114974138 0.00514
NM_000501.4(ELN):c.1388A>G (p.Lys463Arg) rs34945509 0.00505
NM_003573.2(LTBP4):c.2389+9A>G rs73544980 0.00471
NM_006329.4(FBLN5):c.502+15G>C rs190933127 0.00456
NM_000501.4(ELN):c.*172G>A rs56120764 0.00427
NM_016938.5(EFEMP2):c.161-10C>T rs2234461 0.00387
NM_000501.4(ELN):c.*1195C>T rs115872030 0.00381
NM_030777.4(SLC2A10):c.1212G>T (p.Gly404=) rs139155480 0.00363
NM_003573.2(LTBP4):c.79C>T (p.Leu27=) rs370696272 0.00357
NM_016938.5(EFEMP2):c.277G>A (p.Gly93Ser) rs2234462 0.00344
NM_000501.4(ELN):c.921A>G (p.Ala307=) rs6979788 0.00327
NM_002860.4(ALDH18A1):c.2001G>A (p.Glu667=) rs78731297 0.00326
NM_006329.4(FBLN5):c.620-8T>C rs147699855 0.00324
NM_001042545.2(LTBP4):c.2451G>A (p.Glu817=) rs191216887 0.00282
NM_006329.4(FBLN5):c.*647C>T rs10197 0.00262
NM_006329.4(FBLN5):c.-411A>G rs143296045 0.00240
NM_006329.4(FBLN5):c.-152C>T rs139387007 0.00199
NM_006329.4(FBLN5):c.*648G>A rs182435130 0.00140
NM_002860.4(ALDH18A1):c.1329C>T (p.Ile443=) rs117709404 0.00134
NM_006329.4(FBLN5):c.714T>A (p.Leu238=) rs141152607 0.00134
NM_002860.4(ALDH18A1):c.*227A>G rs943341 0.00129
NM_001042545.2(LTBP4):c.858G>A (p.Gly286=) rs146234365 0.00128
NM_000501.4(ELN):c.1821G>C (p.Gly607=) rs144835575 0.00109
NM_152281.3(GORAB):c.*1217T>C rs77280970 0.00081
NM_000501.4(ELN):c.259T>C (p.Phe87Leu) rs140411170 0.00080
NM_012463.4(ATP6V0A2):c.1590C>T (p.Pro530=) rs80355657 0.00078
NM_000501.4(ELN):c.1232T>G (p.Val411Gly) rs200180992 0.00073
NM_000501.4(ELN):c.212C>T (p.Ala71Val) rs41350445 0.00073
NM_012463.4(ATP6V0A2):c.*1122A>G rs3827881 0.00064
NM_000501.4(ELN):c.1507G>A (p.Val503Met) rs41523046 0.00057
NM_001042545.2(LTBP4):c.2238C>T (p.Pro746=) rs201588216 0.00055
NM_000501.4(ELN):c.470-10C>G rs200663056 0.00053
NM_000501.4(ELN):c.278C>T (p.Pro93Leu) rs181019457 0.00048
NM_000501.4(ELN):c.326G>A (p.Gly109Asp) rs145519139 0.00040
NM_000501.4(ELN):c.366A>G (p.Gly122=) rs61734587 0.00034
NM_000501.4(ELN):c.647G>T (p.Gly216Val) rs145612009 0.00034
NM_000501.4(ELN):c.931G>A (p.Ala311Thr) rs41376344 0.00034
NM_152281.3(GORAB):c.*1298T>C rs185248405 0.00033
NM_000501.4(ELN):c.1999C>T (p.Pro667Ser) rs142316834 0.00031
NM_000501.4(ELN):c.*562A>C rs539096901 0.00029
NM_006329.4(FBLN5):c.862+12C>T rs202088447 0.00025
NM_006329.4(FBLN5):c.621T>C (p.Asp207=) rs200178859 0.00021
NM_000501.4(ELN):c.1994-7T>G rs375277198 0.00020
NM_006329.4(FBLN5):c.1241G>A (p.Arg414Gln) rs142907552 0.00019
NM_006329.4(FBLN5):c.268G>A (p.Gly90Ser) rs144288844 0.00019
NM_000501.4(ELN):c.1467C>T (p.Val489=) rs200512332 0.00017
NM_000501.4(ELN):c.1338C>T (p.Ala446=) rs146576615 0.00016
NM_000501.4(ELN):c.249C>T (p.Pro83=) rs565001805 0.00016
NM_000501.4(ELN):c.232+3G>A rs377172364 0.00015
NM_000501.4(ELN):c.1317C>T (p.Pro439=) rs201861098 0.00014
NM_006329.4(FBLN5):c.1191G>A (p.Thr397=) rs148660796 0.00014
NM_000501.4(ELN):c.1271G>A (p.Gly424Glu) rs782725817 0.00010
NM_000501.4(ELN):c.460G>A (p.Val154Met) rs145669576 0.00010
NM_006329.4(FBLN5):c.1113G>A (p.Thr371=) rs560780691 0.00008
NM_000501.4(ELN):c.1234G>A (p.Gly412Arg) rs375116795 0.00006
NM_000501.4(ELN):c.886G>A (p.Ala296Thr) rs782335529 0.00006
NM_001042545.2(LTBP4):c.1953G>A (p.Pro651=) rs371903094 0.00005
NM_000501.4(ELN):c.1674C>T (p.Gly558=) rs182784538 0.00004
NM_000501.4(ELN):c.2077C>T (p.Pro693Ser) rs369804770 0.00004
NM_000501.4(ELN):c.2132-5T>A rs539160518 0.00004
NM_006329.4(FBLN5):c.-57G>A rs546827390 0.00004
NM_000501.4(ELN):c.470-5G>A rs368292481 0.00003
NM_006329.4(FBLN5):c.-458G>A rs369441736 0.00002
NM_000501.4(ELN):c.134-10C>G rs782069123 0.00001
NM_000501.4(ELN):c.1640G>A (p.Gly547Asp) rs150248865 0.00001
NM_000501.4(ELN):c.767C>T (p.Ala256Val) rs782285456 0.00001
NM_006329.4(FBLN5):c.676G>A (p.Gly226Ser) rs747288805 0.00001
NM_006907.4(PYCR1):c.-62G>A rs573221309 0.00001
NM_000501.4(ELN):c.*636G>A rs533779578
NM_000501.4(ELN):c.*659G>C rs8326
NM_000501.4(ELN):c.1096+12TG[16] rs10579871
NM_000501.4(ELN):c.1264G>A (p.Gly422Ser) rs2071307
NM_000501.4(ELN):c.1269C>T (p.Val423=) rs61734583
NM_000501.4(ELN):c.1741G>C (p.Gly581Arg) rs17855988
NM_000501.4(ELN):c.1819G>C (p.Gly607Arg) rs781963804
NM_000501.4(ELN):c.328G>A (p.Ala110Thr) rs137953195
NM_001042545.2(LTBP4):c.*86C>T rs10424186
NM_001042545.2(LTBP4):c.2565C>T (p.Asp855=) rs2077407
NM_001042545.2(LTBP4):c.3035dup (p.Tyr1013fs) rs59030801
NM_012463.4(ATP6V0A2):c.*2353G>T rs74386589
NM_012463.4(ATP6V0A2):c.*3167G>A rs112529654
NM_030777.4(SLC2A10):c.316G>T (p.Ala106Ser) rs6094438

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