ClinVar Miner

List of variants studied for Caffey disease

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 216
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.2298T>C (p.Thr766=) rs2734272 0.99956
NM_000088.4(COL1A1):c.4249-12G>A rs2249492 0.52233
NM_000088.4(COL1A1):c.*744C>T rs1061947 0.15959
NM_000088.4(COL1A1):c.104-441G>T rs1800012 0.13897
NM_000088.4(COL1A1):c.1930-14T>C rs2696247 0.13425
NM_000088.4(COL1A1):c.*1011T>C rs1061970 0.12435
NM_000088.4(COL1A1):c.859-14T>G rs17639446 0.07746
NM_000088.4(COL1A1):c.3459T>C (p.Asp1153=) rs1800218 0.04610
NM_000088.4(COL1A1):c.177G>T (p.Arg59=) rs1057297 0.04003
NM_000088.4(COL1A1):c.3223G>A (p.Ala1075Thr) rs1800215 0.02714
NM_000088.4(COL1A1):c.298+7C>A rs41317345 0.01333
NM_000088.4(COL1A1):c.1615-4C>A rs41316657 0.00846
NM_000088.4(COL1A1):c.*1165C>G rs149419718 0.00794
NM_000088.4(COL1A1):c.1803C>T (p.Pro601=) rs148275339 0.00788
NM_000088.4(COL1A1):c.1821C>T (p.Val607=) rs41316667 0.00750
NM_000088.4(COL1A1):c.904-9G>T rs141726413 0.00680
NM_000088.4(COL1A1):c.*1175T>G rs75713851 0.00595
NM_000088.4(COL1A1):c.3897C>T (p.Cys1299=) rs34940368 0.00563
NM_000088.4(COL1A1):c.*1233G>A rs73987442 0.00516
NM_000088.4(COL1A1):c.3243T>C (p.Val1081=) rs1800217 0.00465
NM_000088.4(COL1A1):c.750+12G>T rs79480112 0.00434
NM_000088.4(COL1A1):c.1168G>A (p.Ala390Thr) rs116794104 0.00432
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala) rs72667032 0.00331
NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=) rs1800219 0.00281
NM_000088.4(COL1A1):c.*1088G>A rs191326459 0.00264
NM_000088.4(COL1A1):c.1984-5C>A rs66592376 0.00249
NM_000088.4(COL1A1):c.-57G>A rs2734278 0.00229
NM_000088.4(COL1A1):c.*548C>A rs557681960 0.00220
NM_000088.4(COL1A1):c.4006-33G>A rs201920224 0.00190
NM_000088.4(COL1A1):c.*378C>G rs148131473 0.00150
NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr) rs149561221 0.00134
NM_000088.4(COL1A1):c.2613+14G>A rs41316685 0.00101
NM_000088.4(COL1A1):c.4181A>G (p.Asn1394Ser) rs147266928 0.00087
NM_000088.4(COL1A1):c.2595C>T (p.Arg865=) rs117672175 0.00073
NM_000088.4(COL1A1):c.3099+7T>C rs201682029 0.00066
NM_000088.4(COL1A1):c.1461+13G>T rs371161009 0.00061
NM_000088.4(COL1A1):c.3423A>C (p.Arg1141=) rs148737409 0.00054
NM_000088.4(COL1A1):c.*981G>C rs574167621 0.00045
NM_000088.4(COL1A1):c.3424-6C>A rs370865189 0.00044
NM_000088.4(COL1A1):c.-66G>A rs565562045 0.00039
NM_000088.4(COL1A1):c.462C>T (p.Gly154=) rs41317351 0.00038
NM_000088.4(COL1A1):c.*1087C>T rs557843360 0.00036
NM_000088.4(COL1A1):c.334-5C>A rs115997082 0.00035
NM_000088.4(COL1A1):c.*631G>A rs569577942 0.00033
NM_000088.4(COL1A1):c.588+16G>A rs191715075 0.00032
NM_000088.4(COL1A1):c.1002+10G>T rs368316440 0.00031
NM_000088.4(COL1A1):c.2467C>G (p.Pro823Ala) rs1800214 0.00031
NM_000088.4(COL1A1):c.1768-8C>T rs193922142 0.00030
NM_000088.4(COL1A1):c.1983+9G>C rs201091992 0.00029
NM_000088.4(COL1A1):c.*836C>T rs527358320 0.00028
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975 0.00023
NM_000088.4(COL1A1):c.1691G>A (p.Arg564His) rs1800211 0.00021
NM_000088.4(COL1A1):c.957+10C>A rs376179885 0.00020
NM_000088.4(COL1A1):c.1269C>T (p.Pro423=) rs149301001 0.00019
NM_000088.4(COL1A1):c.2932C>T (p.Pro978Ser) rs193922153 0.00019
NM_000088.4(COL1A1):c.299-15C>T rs199523510 0.00019
NM_000088.4(COL1A1):c.*120T>C rs773014749 0.00017
NM_000088.4(COL1A1):c.3815-12G>T rs201066018 0.00017
NM_000088.4(COL1A1):c.*202A>G rs564917505 0.00016
NM_000088.4(COL1A1):c.*795C>T rs886053147 0.00016
NM_000088.4(COL1A1):c.1005T>A (p.Gly335=) rs375914028 0.00016
NM_000088.4(COL1A1):c.1615-14C>T rs190098788 0.00016
NM_000088.4(COL1A1):c.3061G>C (p.Glu1021Gln) rs139593707 0.00014
NM_000088.4(COL1A1):c.1233C>T (p.Phe411=) rs776387246 0.00013
NM_000088.4(COL1A1):c.3233T>C (p.Val1078Ala) rs767525556 0.00013
NM_000088.4(COL1A1):c.627C>T (p.Gly209=) rs201136122 0.00013
NM_000088.4(COL1A1):c.2613+13C>T rs368380161 0.00011
NM_000088.4(COL1A1):c.77G>A (p.Gly26Asp) rs151171179 0.00011
NM_000088.4(COL1A1):c.*1384_*1387del rs886053139 0.00010
NM_000088.4(COL1A1):c.*502C>T rs1004356084 0.00010
NM_000088.4(COL1A1):c.*342C>A rs1253268385 0.00009
NM_000088.4(COL1A1):c.3531+4T>C rs145251615 0.00009
NM_000088.4(COL1A1):c.4372G>A (p.Val1458Ile) rs138557594 0.00009
NM_000088.4(COL1A1):c.2424C>T (p.Pro808=) rs369699409 0.00008
NM_000088.4(COL1A1):c.3169G>A (p.Val1057Ile) rs575285203 0.00008
NM_000088.4(COL1A1):c.*714C>T rs567392981 0.00007
NM_000088.4(COL1A1):c.*21G>C rs201085309 0.00006
NM_000088.4(COL1A1):c.1155+12C>T rs774034198 0.00006
NM_000088.4(COL1A1):c.1887C>T (p.Gly629=) rs375695940 0.00006
NM_000088.4(COL1A1):c.2116G>A (p.Asp706Asn) rs372215246 0.00006
NM_000088.4(COL1A1):c.2166C>T (p.Gly722=) rs200188855 0.00006
NM_000088.4(COL1A1):c.2167G>A (p.Ala723Thr) rs150803124 0.00006
NM_000088.4(COL1A1):c.3580G>A (p.Ala1194Thr) rs769571473 0.00006
NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr) rs148216434 0.00006
NM_000088.4(COL1A1):c.4005+5G>A rs778417218 0.00006
NM_000088.4(COL1A1):c.528C>T (p.Ser176=) rs748856187 0.00006
NM_000088.4(COL1A1):c.589-20T>C rs370564344 0.00006
NM_000088.4(COL1A1):c.649A>T (p.Met217Leu) rs763409550 0.00006
NM_000088.4(COL1A1):c.*1151C>T rs536196631 0.00005
NM_000088.4(COL1A1):c.*1205C>G rs551536386 0.00005
NM_000088.4(COL1A1):c.1200+5G>A rs374322003 0.00005
NM_000088.4(COL1A1):c.*285C>A rs990020766 0.00004
NM_000088.4(COL1A1):c.3247G>A (p.Ala1083Thr) rs372029024 0.00004
NM_000088.4(COL1A1):c.3278G>A (p.Arg1093His) rs781491172 0.00004
NM_000088.4(COL1A1):c.3630C>T (p.His1210=) rs745320719 0.00004
NM_000088.4(COL1A1):c.3755G>A (p.Arg1252His) rs371904584 0.00004
NM_000088.4(COL1A1):c.4067G>A (p.Arg1356His) rs149820303 0.00004
NM_000088.4(COL1A1):c.4196G>A (p.Arg1399His) rs146035171 0.00004
NM_000088.4(COL1A1):c.*1265C>T rs567249120 0.00003
NM_000088.4(COL1A1):c.*682C>T rs77720683 0.00003
NM_000088.4(COL1A1):c.1272C>T (p.Gly424=) rs765154255 0.00003
NM_000088.4(COL1A1):c.1888G>A (p.Glu630Lys) rs775106436 0.00003
NM_000088.4(COL1A1):c.229G>A (p.Glu77Lys) rs753683126 0.00003
NM_000088.4(COL1A1):c.3987C>T (p.Ser1329=) rs756297543 0.00003
NM_000088.4(COL1A1):c.*251dup rs886053154 0.00002
NM_000088.4(COL1A1):c.*93A>G rs367971695 0.00002
NM_000088.4(COL1A1):c.1017C>T (p.Pro339=) rs543735501 0.00002
NM_000088.4(COL1A1):c.2743C>T (p.Pro915Ser) rs756337302 0.00002
NM_000088.4(COL1A1):c.3277C>T (p.Arg1093Cys) rs72656307 0.00002
NM_000088.4(COL1A1):c.4197C>T (p.Arg1399=) rs757759451 0.00002
NM_017436.7(A4GALT):c.42C>T (p.Gly14=) rs778598915 0.00002
NM_000088.4(COL1A1):c.*194G>A rs886053158 0.00001
NM_000088.4(COL1A1):c.*837G>A rs564977858 0.00001
NM_000088.4(COL1A1):c.-115G>A rs886053164 0.00001
NM_000088.4(COL1A1):c.-23G>A rs200689194 0.00001
NM_000088.4(COL1A1):c.1012G>A (p.Gly338Ser) rs66664580 0.00001
NM_000088.4(COL1A1):c.1045G>T (p.Val349Phe) rs72645362 0.00001
NM_000088.4(COL1A1):c.1492G>A (p.Ala498Thr) rs1051473344 0.00001
NM_000088.4(COL1A1):c.1669-10C>A rs886053162 0.00001
NM_000088.4(COL1A1):c.2089C>T (p.Arg697Ter) rs72651642 0.00001
NM_000088.4(COL1A1):c.2299G>A (p.Gly767Ser) rs72651658 0.00001
NM_000088.4(COL1A1):c.2602G>A (p.Ala868Thr) rs779846520 0.00001
NM_000088.4(COL1A1):c.2796C>T (p.Gly932=) rs746453576 0.00001
NM_000088.4(COL1A1):c.3040C>T (p.Arg1014Cys) rs72653170 0.00001
NM_000088.4(COL1A1):c.3333T>C (p.Arg1111=) rs372044347 0.00001
NM_000088.4(COL1A1):c.3619G>A (p.Glu1207Lys) rs746671446 0.00001
NM_000088.4(COL1A1):c.3733A>T (p.Ile1245Phe) rs199514372 0.00001
NM_000088.4(COL1A1):c.3815-10C>T rs770568983 0.00001
NM_000088.4(COL1A1):c.3994G>A (p.Asp1332Asn) rs754984293 0.00001
NM_000088.4(COL1A1):c.4276G>A (p.Val1426Met) rs763025405 0.00001
NM_000088.4(COL1A1):c.4339G>A (p.Val1447Ile) rs367952133 0.00001
NM_000088.4(COL1A1):c.*1007_*1008del rs886053144
NM_000088.4(COL1A1):c.*1026TG[1] rs878983048
NM_000088.4(COL1A1):c.*1026_*1028del rs751268781
NM_000088.4(COL1A1):c.*1027G>T rs200882287
NM_000088.4(COL1A1):c.*1027del rs878912123
NM_000088.4(COL1A1):c.*1029_*1031del rs886053143
NM_000088.4(COL1A1):c.*1030_*1031del rs886053142
NM_000088.4(COL1A1):c.*1045del rs886053141
NM_000088.4(COL1A1):c.*1316C>G rs967567610
NM_000088.4(COL1A1):c.*1324A>G rs886053140
NM_000088.4(COL1A1):c.*215del rs886053157
NM_000088.4(COL1A1):c.*242_*244dup rs56302025
NM_000088.4(COL1A1):c.*243_*244dup rs56302025
NM_000088.4(COL1A1):c.*245_*246dup rs886053155
NM_000088.4(COL1A1):c.*245del rs886053156
NM_000088.4(COL1A1):c.*255dup rs886053153
NM_000088.4(COL1A1):c.*257_*258dup rs886053152
NM_000088.4(COL1A1):c.*258dup rs886053152
NM_000088.4(COL1A1):c.*259_*260insAT rs886053151
NM_000088.4(COL1A1):c.*356T>A rs1906365029
NM_000088.4(COL1A1):c.*437A>C rs886053150
NM_000088.4(COL1A1):c.*623G>A rs886053149
NM_000088.4(COL1A1):c.*681_*682insAGCA rs3840870
NM_000088.4(COL1A1):c.*733G>A rs886053148
NM_000088.4(COL1A1):c.*73C>A rs1906402899
NM_000088.4(COL1A1):c.*815A>G rs886053146
NM_000088.4(COL1A1):c.*88T>A rs1061237
NM_000088.4(COL1A1):c.*88T>C rs1061237
NM_000088.4(COL1A1):c.*998_*999del rs886053145
NM_000088.4(COL1A1):c.-78_-77delinsAA rs886053163
NM_000088.4(COL1A1):c.-98G>A rs574683904
NM_000088.4(COL1A1):c.-98G>C rs574683904
NM_000088.4(COL1A1):c.1056+12dup rs766175536
NM_000088.4(COL1A1):c.1177C>T (p.Gln393Ter) rs2144576822
NM_000088.4(COL1A1):c.1192G>C (p.Gly398Arg) rs72648319
NM_000088.4(COL1A1):c.1243C>T (p.Arg415Ter) rs72648326
NM_000088.4(COL1A1):c.1249C>G (p.Pro417Ala) rs72648327
NM_000088.4(COL1A1):c.1249C>T (p.Pro417Ser) rs72648327
NM_000088.4(COL1A1):c.1273G>A (p.Gly425Ser) rs72648330
NM_000088.4(COL1A1):c.1299+1G>A rs66490707
NM_000088.4(COL1A1):c.1300-8C>G rs41317361
NM_000088.4(COL1A1):c.1300-8C>T rs41317361
NM_000088.4(COL1A1):c.1375C>A (p.Pro459Thr) rs751299130
NM_000088.4(COL1A1):c.1400G>A (p.Gly467Glu) rs267604943
NM_000088.4(COL1A1):c.1461+5G>A
NM_000088.4(COL1A1):c.1554C>A (p.Gly518=) rs762086114
NM_000088.4(COL1A1):c.1667del (p.Pro556fs) rs1351742344
NM_000088.4(COL1A1):c.1733G>A (p.Gly578Asp) rs2144569208
NM_000088.4(COL1A1):c.1777G>T (p.Gly593Cys) rs66527965
NM_000088.4(COL1A1):c.1821+1G>A rs66555264
NM_000088.4(COL1A1):c.1910C>G (p.Ala637Gly) rs886053161
NM_000088.4(COL1A1):c.1983+9G>T rs201091992
NM_000088.4(COL1A1):c.2168C>T (p.Ala723Val) rs561374961
NM_000088.4(COL1A1):c.2320C>G (p.Pro774Ala) rs1423591325
NM_000088.4(COL1A1):c.2343+1G>A rs1114167378
NM_000088.4(COL1A1):c.2362G>A (p.Gly788Ser) rs67879854
NM_000088.4(COL1A1):c.251C>G (p.Ala84Gly) rs775095655
NM_000088.4(COL1A1):c.2633G>C (p.Gly878Ala) rs2144551547
NM_000088.4(COL1A1):c.2752C>T (p.Arg918Cys)
NM_000088.4(COL1A1):c.288del (p.Asp97fs) rs2144593759
NM_000088.4(COL1A1):c.3065G>C (p.Gly1022Ala) rs67771061
NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter) rs72653173
NM_000088.4(COL1A1):c.3099+7T>G rs201682029
NM_000088.4(COL1A1):c.3122C>T (p.Pro1041Leu) rs1906769403
NM_000088.4(COL1A1):c.3207+3A>G rs1906755287
NM_000088.4(COL1A1):c.3226G>A (p.Gly1076Ser) rs67394386
NM_000088.4(COL1A1):c.3263del
NM_000088.4(COL1A1):c.3398G>A (p.Gly1133Glu) rs1906659084
NM_000088.4(COL1A1):c.3495del (p.Gly1166fs) rs1555571916
NM_000088.4(COL1A1):c.3505G>A (p.Gly1169Ser) rs67815019
NM_000088.4(COL1A1):c.3541G>A (p.Gly1181Ser) rs72656330
NM_000088.4(COL1A1):c.3769del (p.Arg1257fs) rs1906559620
NM_000088.4(COL1A1):c.385C>T (p.Pro129Ser) rs761672800
NM_000088.4(COL1A1):c.4092G>A (p.Gln1364=) rs886053160
NM_000088.4(COL1A1):c.4140G>C (p.Gln1380His) rs886053159
NM_000088.4(COL1A1):c.608G>A (p.Gly203Asp) rs72667031
NM_000088.4(COL1A1):c.635G>A (p.Gly212Glu)
NM_000088.4(COL1A1):c.769G>A (p.Gly257Arg) rs72645321
NM_000088.4(COL1A1):c.804+15A>C rs148110802
NM_000088.4(COL1A1):c.814G>T (p.Gly272Cys) rs72645331
NM_000088.4(COL1A1):c.887G>T (p.Gly296Val) rs1567761800
NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys) rs72645347
NM_000088.4(COL1A1):c.957+15C>T rs779096006
NM_000088.4(COL1A1):c.985G>C (p.Gly329Arg) rs1555574303
NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg) rs72645357

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