ClinVar Miner

List of variants studied for Marfan and Marfan-related disorder by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_005902.4(SMAD3):c.309A>G (p.Leu103=) rs1065080 0.87365
NM_005902.4(SMAD3):c.207-14637C>T rs17293632 0.17469
NM_003036.4(SKI):c.185C>G (p.Ala62Gly) rs28384811 0.05253
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val) rs35874463 0.03414
NM_005902.4(SMAD3):c.870C>T (p.Ile290=) rs117185005 0.01464
NM_003238.6(TGFB2):c.643+7A>C rs7531245 0.01418
NM_003036.4(SKI):c.99C>G (p.Gly33=) rs200019352 0.01364
NM_003036.4(SKI):c.294C>T (p.Thr98=) rs115746142 0.01188
NM_003036.4(SKI):c.456C>T (p.Arg152=) rs149898447 0.00976
NM_003036.4(SKI):c.1211+11G>A rs115186522 0.00934
NM_003036.4(SKI):c.1974C>T (p.Arg658=) rs201895384 0.00623
NM_003036.4(SKI):c.1446G>A (p.Ala482=) rs114345135 0.00570
NM_003036.4(SKI):c.1834C>T (p.Leu612=) rs35833638 0.00418
NM_003036.4(SKI):c.1163C>T (p.Ala388Val) rs75280988 0.00410
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu) rs10482810 0.00359
NM_003036.4(SKI):c.1410C>T (p.Pro470=) rs150985728 0.00322
NM_003238.6(TGFB2):c.272G>A (p.Arg91His) rs10482721 0.00297
NM_003036.4(SKI):c.1527C>T (p.Ser509=) rs111935632 0.00270
NM_003036.4(SKI):c.1211+19C>T rs182600375 0.00178
NM_003036.4(SKI):c.2184G>C (p.Pro728=) rs543584871 0.00167
NM_003036.4(SKI):c.798C>T (p.Ala266=) rs149642284 0.00097
NM_003238.6(TGFB2):c.114G>A (p.Glu38=) rs149215818 0.00087
NM_003036.4(SKI):c.216C>T (p.Pro72=) rs756778048 0.00083
NM_003036.4(SKI):c.417C>T (p.Ile139=) rs144874401 0.00076
NM_003036.4(SKI):c.1593T>C (p.Pro531=) rs144279718 0.00065
NM_003238.6(TGFB2):c.357G>A (p.Pro119=) rs138514914 0.00054
NM_003036.4(SKI):c.1734C>T (p.Ser578=) rs117443908 0.00046
NM_005902.4(SMAD3):c.207-26779C>T rs539491144 0.00041
NM_003036.4(SKI):c.948G>A (p.Lys316=) rs368128582 0.00032
NM_005902.4(SMAD3):c.207-10G>A rs201912204 0.00025
NM_003036.4(SKI):c.799C>T (p.Leu267=) rs140178396 0.00016
NM_003238.6(TGFB2):c.199G>A (p.Val67Met) rs201761868 0.00015
NM_003036.4(SKI):c.640A>G (p.Ser214Gly) rs139179843 0.00013
NM_003036.4(SKI):c.970-5C>T rs755318392 0.00011
NM_005902.4(SMAD3):c.207-13C>T rs200548744 0.00010
NM_003036.4(SKI):c.1109T>C (p.Val370Ala) rs138088528 0.00008
NM_003036.4(SKI):c.360C>T (p.Arg120=) rs375024753 0.00006
NM_003036.4(SKI):c.994A>G (p.Ile332Val) rs374264201 0.00005
NM_003036.4(SKI):c.726C>T (p.Ala242=) rs139227600 0.00004
NM_003036.4(SKI):c.1272G>A (p.Pro424=) rs552946737 0.00003
NM_005902.4(SMAD3):c.1258C>T (p.Arg420Cys) rs1206533102 0.00003
NM_003036.4(SKI):c.625C>A (p.Leu209Met) rs771298442 0.00002
NM_003238.6(TGFB2):c.798T>A (p.Thr266=) rs376354795 0.00002
NM_003036.4(SKI):c.1152C>T (p.Pro384=) rs200160702 0.00001
NM_003036.4(SKI):c.1317C>T (p.Val439=) rs1446526482 0.00001
NM_003238.6(TGFB2):c.1086+20G>C rs201814950 0.00001
NM_003238.6(TGFB2):c.773C>T (p.Thr258Ile) rs373352179 0.00001
NM_005902.4(SMAD3):c.206+11G>T rs763321881 0.00001
NM_005902.4(SMAD3):c.658+15G>C rs1296574345 0.00001
NM_000138.5(FBN1):c.7994A>G (p.Asn2665Ser) rs763173031
NM_003036.4(SKI):c.1096A>C (p.Ser366Arg) rs1269741981
NM_003036.4(SKI):c.1311C>T (p.Ala437=) rs140889128
NM_003036.4(SKI):c.1474+8_1474+9del
NM_003036.4(SKI):c.1887G>A (p.Glu629=) rs771953750
NM_003036.4(SKI):c.1942C>G (p.Arg648Gly) rs555623960
NM_003036.4(SKI):c.969+10C>T
NM_003238.6(TGFB2):c.1027G>A (p.Ala343Thr) rs779554274
NM_003238.6(TGFB2):c.510+12TTG[11] rs10482769
NM_003238.6(TGFB2):c.510+12TTG[13] rs10482769
NM_003238.6(TGFB2):c.510+12TTG[9] rs10482769
NM_003238.6(TGFB2):c.643+11_643+12del
NM_003238.6(TGFB2):c.904C>T (p.Arg302Cys) rs869312903
NM_003238.6(TGFB2):c.958C>T (p.Arg320Cys) rs1553303352
NM_005902.4(SMAD3):c.1117C>T (p.Arg373Cys) rs863223746
NM_005902.4(SMAD3):c.1118G>A (p.Arg373His) rs1060500766
NM_005902.4(SMAD3):c.284C>T (p.Pro95Leu) rs1962536528
NM_005902.4(SMAD3):c.30G>T (p.Pro10=)
NM_005902.4(SMAD3):c.445_455del (p.Glu149fs) rs2140294805
NM_005902.4(SMAD3):c.727C>T (p.Arg243Cys) rs886039137

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