ClinVar Miner

List of variants studied for Marfan and Marfan-related disorder by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=) rs363830 0.02418
NM_001999.4(FBN2):c.6511+5G>A rs200608284 0.00363
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_003036.4(SKI):c.1196C>T (p.Ala399Val) rs141862996 0.00148
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192 0.00130
NM_004612.4(TGFBR1):c.457G>A (p.Val153Ile) rs56014374 0.00115
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730 0.00107
NM_000138.5(FBN1):c.2934C>G (p.Asp978Glu) rs138438849 0.00070
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753 0.00034
NM_001999.4(FBN2):c.7012+6C>T rs749376421 0.00032
NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile) rs138834515 0.00021
NM_000138.5(FBN1):c.902G>T (p.Gly301Val) rs142888621 0.00018
NM_000138.5(FBN1):c.3454G>A (p.Ala1152Thr) rs140890215 0.00016
NM_001999.4(FBN2):c.2536G>A (p.Glu846Lys) rs375666281 0.00014
NM_003036.4(SKI):c.640A>G (p.Ser214Gly) rs139179843 0.00013
NM_000138.5(FBN1):c.4998C>G (p.Thr1666=) rs141925790 0.00006
NM_001999.4(FBN2):c.5855T>C (p.Val1952Ala) rs372879535 0.00006
NM_001999.4(FBN2):c.7808T>C (p.Phe2603Ser) rs374507398 0.00006
NM_001999.4(FBN2):c.3584G>A (p.Arg1195His) rs751600209 0.00005
NM_001999.4(FBN2):c.5494C>T (p.Arg1832Cys) rs778519094 0.00005
NM_000138.5(FBN1):c.3462C>T (p.Ile1154=) rs144339604 0.00004
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg) rs148076256 0.00002
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_003238.6(TGFB2):c.251G>A (p.Arg84Gln) rs781392453 0.00002
NM_004612.4(TGFBR1):c.516A>G (p.Ser172=) rs140245968 0.00002
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys) rs727503057 0.00001
NM_000138.5(FBN1):c.4460-8G>A rs193922204 0.00001
NM_000138.5(FBN1):c.6244G>C (p.Glu2082Gln) rs1052480459 0.00001
NM_000138.5(FBN1):c.6845G>A (p.Arg2282Gln) rs759696323 0.00001
NM_000138.5(FBN1):c.8189G>A (p.Arg2730Gln) rs200231626 0.00001
NM_001999.4(FBN2):c.3495C>A (p.Asn1165Lys) rs774250442 0.00001
NM_003036.4(SKI):c.1735G>A (p.Ala579Thr) rs370558210 0.00001
NM_003036.4(SKI):c.2058C>T (p.Ala686=) rs1171554207 0.00001
NM_003036.4(SKI):c.2092C>T (p.Leu698=) rs766929334 0.00001
NM_003242.6(TGFBR2):c.505G>C (p.Gly169Arg) rs759362407 0.00001
NM_000138.5(FBN1):c.164+3A>G
NM_000138.5(FBN1):c.1964C>T (p.Thr655Ile)
NM_000138.5(FBN1):c.2200T>C (p.Cys734Arg) rs2141306513
NM_000138.5(FBN1):c.2237A>G (p.Tyr746Cys) rs1555399372
NM_000138.5(FBN1):c.2287T>G (p.Cys763Gly) rs1555399361
NM_000138.5(FBN1):c.2305_2315del (p.Cys769fs) rs1566911957
NM_000138.5(FBN1):c.2419G>A (p.Asp807Asn) rs1566911886
NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter) rs140583
NM_000138.5(FBN1):c.2753del (p.Pro918fs)
NM_000138.5(FBN1):c.3012C>G (p.Tyr1004Ter) rs397515784
NM_000138.5(FBN1):c.3083A>G (p.Asp1028Gly) rs1131691317
NM_000138.5(FBN1):c.315_318dup (p.Ile107fs) rs1597631624
NM_000138.5(FBN1):c.3337+1dup rs1566909762
NM_000138.5(FBN1):c.3413G>C (p.Cys1138Ser) rs397515791
NM_000138.5(FBN1):c.3578T>C (p.Leu1193Pro) rs2141293110
NM_000138.5(FBN1):c.368G>A (p.Cys123Tyr) rs397515794
NM_000138.5(FBN1):c.4049G>T (p.Cys1350Phe) rs1555397718
NM_000138.5(FBN1):c.4337A>G (p.Asp1446Gly) rs397515806
NM_000138.5(FBN1):c.4462G>T (p.Val1488Leu) rs1566904712
NM_000138.5(FBN1):c.4621C>T (p.Arg1541Ter) rs794728228
NM_000138.5(FBN1):c.5546-1G>A rs1566899590
NM_000138.5(FBN1):c.5836del (p.Gln1946fs) rs2141249251
NM_000138.5(FBN1):c.6037+9G>A
NM_000138.5(FBN1):c.6164-5T>C rs2043085940
NM_000138.5(FBN1):c.6183T>A (p.Cys2061Ter) rs71467648
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.5(FBN1):c.6403G>C (p.Asp2135His) rs746167150
NM_000138.5(FBN1):c.6453C>T (p.Cys2151=) rs794728251
NM_000138.5(FBN1):c.6563T>G (p.Phe2188Cys)
NM_000138.5(FBN1):c.6569G>A (p.Cys2190Tyr)
NM_000138.5(FBN1):c.6661T>C (p.Cys2221Arg) rs113543334
NM_000138.5(FBN1):c.6749A>T (p.Glu2250Val) rs2043018196
NM_000138.5(FBN1):c.6957T>C (p.Asn2319=) rs1290478839
NM_000138.5(FBN1):c.69T>C (p.His23=) rs2140787712
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) rs137854480
NM_001999.4(FBN2):c.1799_1800delinsTT (p.Cys600Phe) rs1581251031
NM_001999.4(FBN2):c.1800delinsTT (p.Ile601fs)
NM_001999.4(FBN2):c.255-3C>G rs2112809259
NM_001999.4(FBN2):c.3424T>G (p.Cys1142Gly) rs1750918931
NM_001999.4(FBN2):c.3481G>A (p.Glu1161Lys) rs1554123065
NM_001999.4(FBN2):c.3514G>T (p.Gly1172Cys) rs138303817
NM_001999.4(FBN2):c.4559G>T (p.Gly1520Val) rs886038767
NM_001999.4(FBN2):c.8547A>G (p.Gln2849=) rs1561733846
NM_003239.5(TGFB3):c.260G>T (p.Arg87Met) rs1379970824
NM_003239.5(TGFB3):c.352+124C>G
NM_003239.5(TGFB3):c.464G>A (p.Arg155Gln) rs925224125
NM_003239.5(TGFB3):c.927-1G>C rs767548724
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003242.6(TGFBR2):c.1524G>A (p.Gln508=) rs121918715
NM_003242.6(TGFBR2):c.1682G>C (p.Gly561Ala) rs1559473531
NM_003242.6(TGFBR2):c.413G>A (p.Cys138Tyr) rs1559458957
NM_004612.4(TGFBR1):c.363_364insTCA (p.Leu121_Gly122insSer) rs2118625345
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu) rs111854391
NM_005902.4(SMAD3):c.269G>A (p.Arg90His) rs886038803
NM_005902.4(SMAD3):c.787C>T (p.Pro263Ser) rs863223739

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