ClinVar Miner

List of variants studied for Marfan and Marfan-related disorder by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 102
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HGVS dbSNP gnomAD frequency
NM_003242.6(TGFBR2):c.263+7A>G rs1155705 0.34308
NM_003242.6(TGFBR2):c.1266A>G (p.Ala422=) rs2228047 0.02974
NM_000138.5(FBN1):c.2420-58del rs149403312 0.01826
NM_000138.5(FBN1):c.3442C>G (p.Pro1148Ala) rs140598 0.01315
NM_000138.5(FBN1):c.3965-8T>C rs140637 0.00859
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr) rs12324002 0.00737
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=) rs111844882 0.00439
NM_000138.5(FBN1):c.1746C>T (p.Cys582=) rs112366266 0.00436
NM_000138.5(FBN1):c.3675G>A (p.Pro1225=) rs148147223 0.00436
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=) rs113115949 0.00435
NM_000138.5(FBN1):c.3082+8del rs193922196 0.00359
NM_000138.5(FBN1):c.8283A>T (p.Thr2761=) rs146120912 0.00314
NM_000138.5(FBN1):c.2055C>T (p.Cys685=) rs140603 0.00304
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=) rs7861780 0.00288
NM_000138.5(FBN1):c.1714+54del rs193922184 0.00156
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=) rs363847 0.00148
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192 0.00130
NM_000138.5(FBN1):c.6073G>T (p.Ala2025Ser) rs113577372 0.00115
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054 0.00113
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730 0.00107
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407 0.00078
NM_000138.5(FBN1):c.510C>T (p.Tyr170=) rs111671429 0.00076
NM_000138.5(FBN1):c.539-15del rs193922211 0.00026
NM_000138.5(FBN1):c.2658G>A (p.Pro886=) rs193922192 0.00003
NM_000138.5(FBN1):c.8219A>G (p.Asn2740Ser) rs193922242 0.00003
NM_000138.5(FBN1):c.2057C>A (p.Ala686Asp) rs193922186 0.00001
NM_000138.5(FBN1):c.2433C>T (p.Cys811=) rs193921256 0.00001
NM_000138.5(FBN1):c.3560A>G (p.His1187Arg) rs193922200 0.00001
NM_000138.5(FBN1):c.4460-8G>A rs193922204 0.00001
NM_000138.5(FBN1):c.484G>A (p.Ala162Thr) rs193922210 0.00001
NM_000138.5(FBN1):c.7839C>T (p.Ser2613=) rs193922238 0.00001
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter) rs137854466 0.00001
NM_004612.4(TGFBR1):c.1460G>A (p.Arg487Gln) rs113605875 0.00001
NM_000138.5(FBN1):c.-117del rs193922178
NM_000138.5(FBN1):c.1211del (p.Pro404fs) rs112289537
NM_000138.5(FBN1):c.1643A>T (p.Asn548Ile) rs137854462
NM_000138.5(FBN1):c.165-32del rs193922180
NM_000138.5(FBN1):c.165-46CTT[2] rs386134232
NM_000138.5(FBN1):c.1669_1677dup (p.Cys557_Ala559dup) rs193922181
NM_000138.5(FBN1):c.1709del (p.Cys570fs) rs193922182
NM_000138.5(FBN1):c.1888A>T (p.Asn630Tyr) rs1555399821
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys) rs193922185
NM_000138.5(FBN1):c.2055C>G (p.Cys685Trp) rs140603
NM_000138.5(FBN1):c.2186del (p.Leu729fs) rs193922187
NM_000138.5(FBN1):c.2369G>C (p.Cys790Ser) rs193922188
NM_000138.5(FBN1):c.2479T>C (p.Ser827Pro) rs193922189
NM_000138.5(FBN1):c.2542A>C (p.Thr848Pro) rs193922191
NM_000138.5(FBN1):c.266G>C (p.Cys89Ser) rs112660651
NM_000138.5(FBN1):c.2677G>C (p.Asp893His) rs193922193
NM_000138.5(FBN1):c.2682del (p.Ile895fs) rs193922194
NM_000138.5(FBN1):c.2855-1G>C rs112202622
NM_000138.5(FBN1):c.2855-8T>C rs193922195
NM_000138.5(FBN1):c.3140_3141del (p.Thr1047fs) rs193922197
NM_000138.5(FBN1):c.3193del (p.Glu1065fs) rs193922198
NM_000138.5(FBN1):c.3478G>T (p.Glu1160Ter) rs193922199
NM_000138.5(FBN1):c.3589+11TTTTA[7] rs72158035
NM_000138.5(FBN1):c.3589+11TTTTA[8] rs72158035
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys) rs137854467
NM_000138.5(FBN1):c.4165T>G (p.Cys1389Gly) rs193922203
NM_000138.5(FBN1):c.454A>T (p.Ser152Cys) rs193922206
NM_000138.5(FBN1):c.4684T>A (p.Cys1562Ser) rs193922207
NM_000138.5(FBN1):c.4704A>G (p.Lys1568=) rs193922208
NM_000138.5(FBN1):c.4747+5G>C rs193922209
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter) rs113871094
NM_000138.5(FBN1):c.510C>G (p.Tyr170Ter) rs111671429
NM_000138.5(FBN1):c.5545+12C>T rs193922213
NM_000138.5(FBN1):c.5552A>G (p.Asn1851Ser) rs193922214
NM_000138.5(FBN1):c.5671G>C (p.Asp1891His) rs193922216
NM_000138.5(FBN1):c.5672-3T>C rs193922217
NM_000138.5(FBN1):c.56C>T (p.Ser19Phe) rs193922218
NM_000138.5(FBN1):c.5788+5G>T rs193922219
NM_000138.5(FBN1):c.6006_6012dup (p.Ser2005fs) rs193922220
NM_000138.5(FBN1):c.6120T>C (p.Cys2040=) rs193922221
NM_000138.5(FBN1):c.6380-83del rs193922222
NM_000138.5(FBN1):c.6385G>T (p.Asp2129Tyr) rs193922223
NM_000138.5(FBN1):c.649T>G (p.Trp217Gly) rs193922224
NM_000138.5(FBN1):c.6553_6556dup (p.Gly2186fs) rs193922225
NM_000138.5(FBN1):c.6704del (p.Gly2235fs) rs193922226
NM_000138.5(FBN1):c.6793_6800dup (p.Leu2268fs) rs193922227
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000138.5(FBN1):c.6998-40del rs193922229
NM_000138.5(FBN1):c.7229A>C (p.His2410Pro) rs193922230
NM_000138.5(FBN1):c.7407A>G (p.Ser2469=) rs193922232
NM_000138.5(FBN1):c.7678del (p.Gln2560fs) rs193922235
NM_000138.5(FBN1):c.7806G>A (p.Trp2602Ter) rs193922236
NM_000138.5(FBN1):c.7820-3C>G rs193922237
NM_000138.5(FBN1):c.7898G>C (p.Cys2633Ser) rs193922240
NM_000138.5(FBN1):c.8203del (p.Glu2735fs) rs193922241
NM_000138.5(FBN1):c.8226+5G>T rs193922243
NM_000138.5(FBN1):c.8412_8417del (p.Lys2805_Ile2806del) rs193922246
NM_003036.4(SKI):c.100G>A (p.Gly34Ser) rs387907306
NM_003242.6(TGFBR2):c.1063G>C (p.Ala355Pro) rs104893813
NM_003242.6(TGFBR2):c.1151A>G (p.Asn384Ser) rs193922660
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter) rs104893819
NM_003242.6(TGFBR2):c.1540T>C (p.Cys514Arg) rs193922664
NM_003242.6(TGFBR2):c.1580C>T (p.Ala527Val) rs727503476
NM_003242.6(TGFBR2):c.310C>T (p.Pro104Ser) rs193922665
NM_003242.6(TGFBR2):c.902A>G (p.His301Arg) rs863223857
NM_004612.4(TGFBR1):c.344-74del rs193922675
NM_004612.4(TGFBR1):c.680AAG[1] (p.Glu228del) rs863223829
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu) rs111854391
NM_005902.4(SMAD3):c.532+1G>C rs2140295070

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