List of variants in gene TGFB2 reported as likely benign for Marfan and Marfan-related disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 141

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HGVS	dbSNP	gnomAD frequency
NM_003238.6(TGFB2):c.*1128G>A	rs56271792	0.01172
NM_003238.6(TGFB2):c.-1016C>T	rs11466365	0.01071
NM_003238.6(TGFB2):c.-288A>T	rs116531760	0.00572
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu)	rs10482810	0.00359
NM_003238.6(TGFB2):c.272G>A (p.Arg91His)	rs10482721	0.00297
NM_003238.6(TGFB2):c.*1233T>A	rs555872587	0.00091
NM_003238.6(TGFB2):c.303G>A (p.Lys101=)	rs147052890	0.00072
NM_003238.6(TGFB2):c.823A>G (p.Ser275Gly)	rs139825195	0.00062
NM_003238.6(TGFB2):c.357G>A (p.Pro119=)	rs138514914	0.00054
NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu)	rs149533093	0.00047
NM_003238.6(TGFB2):c.747A>G (p.Arg249=)	rs147960792	0.00032
NM_003238.6(TGFB2):c.347-14C>G	rs371982231	0.00014
NM_003238.6(TGFB2):c.648G>A (p.Arg216=)	rs767503001	0.00012
NM_003238.6(TGFB2):c.297C>T (p.Tyr99=)	rs760759052	0.00011
NM_003238.6(TGFB2):c.217A>G (p.Ser73Gly)	rs753391734	0.00007
NM_003238.6(TGFB2):c.1140C>T (p.Cys380=)	rs201129153	0.00006
NM_003238.6(TGFB2):c.11G>A (p.Cys4Tyr)	rs776628524	0.00006
NM_003238.6(TGFB2):c.644-4C>T	rs11466408	0.00006
NM_003238.6(TGFB2):c.1008C>T (p.His336=)	rs886038528	0.00005
NM_003238.6(TGFB2):c.1053G>A (p.Pro351=)	rs142741166	0.00004
NM_003238.6(TGFB2):c.555C>T (p.Ile185=)	rs760740958	0.00004
NM_003238.6(TGFB2):c.603C>T (p.Phe201=)	rs377264861	0.00004
NM_003238.6(TGFB2):c.984G>A (p.Arg328=)	rs147678881	0.00004
NM_003238.6(TGFB2):c.330C>T (p.Pro110=)	rs150348450	0.00003
NM_003238.6(TGFB2):c.745A>C (p.Arg249=)	rs201845761	0.00003
NM_003238.6(TGFB2):c.1087-13T>G	rs374394434	0.00002
NM_003238.6(TGFB2):c.456T>C (p.Phe152=)	rs372071268	0.00002
NM_003238.6(TGFB2):c.798T>A (p.Thr266=)	rs376354795	0.00002
NM_003238.6(TGFB2):c.1057T>G (p.Leu353Val)	rs777045186	0.00001
NM_003238.6(TGFB2):c.1086+20G>C	rs201814950	0.00001
NM_003238.6(TGFB2):c.1095C>T (p.Ser365=)	rs748818194	0.00001
NM_003238.6(TGFB2):c.1098A>G (p.Leu366=)	rs931960431	0.00001
NM_003238.6(TGFB2):c.1122A>T (p.Ala374=)	rs1316829320	0.00001
NM_003238.6(TGFB2):c.126G>A (p.Gly42=)	rs1199107727	0.00001
NM_003238.6(TGFB2):c.261C>T (p.Ala87=)	rs746416777	0.00001
NM_003238.6(TGFB2):c.306G>A (p.Glu102=)	rs754502128	0.00001
NM_003238.6(TGFB2):c.346+20T>A	rs1226959859	0.00001
NM_003238.6(TGFB2):c.369C>T (p.Tyr123=)	rs368157039	0.00001
NM_003238.6(TGFB2):c.40C>T (p.Leu14=)	rs1407180803	0.00001
NM_003238.6(TGFB2):c.609A>G (p.Val203=)	rs142588546	0.00001
NM_003238.6(TGFB2):c.612T>C (p.Thr204=)	rs960874816	0.00001
NM_003238.6(TGFB2):c.918G>A (p.Ala306=)	rs767936611	0.00001
NM_003238.6(TGFB2):c.942G>A (p.Gln314=)	rs188801474	0.00001
NM_003238.6(TGFB2):c.957A>C (p.Leu319=)	rs755474865	0.00001
NM_003238.6(TGFB2):c.*1233del	rs532376886
NM_003238.6(TGFB2):c.*21G>T	rs778452299
NM_003238.6(TGFB2):c.-45del	rs200186989
NM_003238.6(TGFB2):c.-644AC[11]	rs151329324
NM_003238.6(TGFB2):c.1032C>T (p.Asn344=)
NM_003238.6(TGFB2):c.1041T>C (p.Ala347=)
NM_003238.6(TGFB2):c.1071C>T (p.Asp357=)
NM_003238.6(TGFB2):c.1080C>T (p.His360=)	rs2102630189
NM_003238.6(TGFB2):c.1086+10C>T
NM_003238.6(TGFB2):c.1086+13C>T
NM_003238.6(TGFB2):c.1086+15T>A
NM_003238.6(TGFB2):c.1107C>A (p.Thr369=)	rs2102634327
NM_003238.6(TGFB2):c.111C>A (p.Ile37=)	rs1440677621
NM_003238.6(TGFB2):c.111C>T (p.Ile37=)
NM_003238.6(TGFB2):c.1162C>T (p.Leu388=)
NM_003238.6(TGFB2):c.117G>C (p.Ala39=)	rs1430240541
NM_003238.6(TGFB2):c.1185C>T (p.Gly395=)
NM_003238.6(TGFB2):c.1227G>A (p.Lys409=)	rs2102634493
NM_003238.6(TGFB2):c.1230T>C (p.Ser410=)	rs2102634500
NM_003238.6(TGFB2):c.133C>T (p.Leu45=)	rs1553292084
NM_003238.6(TGFB2):c.142C>T (p.Leu48=)	rs2102527511
NM_003238.6(TGFB2):c.159C>T (p.Pro53=)
NM_003238.6(TGFB2):c.174T>G (p.Pro58=)
NM_003238.6(TGFB2):c.183G>A (p.Glu61=)
NM_003238.6(TGFB2):c.186A>G (p.Glu62=)
NM_003238.6(TGFB2):c.189C>A (p.Val63=)
NM_003238.6(TGFB2):c.189C>T (p.Val63=)	rs774030175
NM_003238.6(TGFB2):c.234C>T (p.Leu78=)
NM_003238.6(TGFB2):c.243G>A (p.Lys81=)	rs2102527710
NM_003238.6(TGFB2):c.252G>C (p.Arg84=)
NM_003238.6(TGFB2):c.255G>A (p.Arg85=)
NM_003238.6(TGFB2):c.285C>A (p.Asp95Glu)	rs767393318
NM_003238.6(TGFB2):c.291G>A (p.Glu97=)
NM_003238.6(TGFB2):c.30G>C (p.Leu10=)	rs1571820584
NM_003238.6(TGFB2):c.327G>C (p.Pro109=)
NM_003238.6(TGFB2):c.346+12T>C
NM_003238.6(TGFB2):c.346+12T>G
NM_003238.6(TGFB2):c.346+8C>G	rs1553292149
NM_003238.6(TGFB2):c.399C>T (p.Asp133=)
NM_003238.6(TGFB2):c.417G>A (p.Lys139=)
NM_003238.6(TGFB2):c.441A>T (p.Ala147=)	rs1036004441
NM_003238.6(TGFB2):c.459T>C (p.Arg153=)
NM_003238.6(TGFB2):c.486T>C (p.Pro162=)
NM_003238.6(TGFB2):c.504A>G (p.Leu168=)
NM_003238.6(TGFB2):c.510+12TTG[11]	rs10482769
NM_003238.6(TGFB2):c.510+12TTG[12]	rs10482769
NM_003238.6(TGFB2):c.510+12TTG[13]	rs10482769
NM_003238.6(TGFB2):c.510+12TTG[14]	rs10482769
NM_003238.6(TGFB2):c.510+12TTG[15]	rs10482769
NM_003238.6(TGFB2):c.510+12TTG[16]
NM_003238.6(TGFB2):c.510+12TTG[6]	rs10482769
NM_003238.6(TGFB2):c.510+12TTG[7]	rs10482769
NM_003238.6(TGFB2):c.510+12TTG[8]	rs10482769
NM_003238.6(TGFB2):c.510+12TTG[9]	rs10482769
NM_003238.6(TGFB2):c.510+9C>T	rs1481374757
NM_003238.6(TGFB2):c.511-18G>A
NM_003238.6(TGFB2):c.511-8C>T	rs770497232
NM_003238.6(TGFB2):c.511-9C>T	rs1309139149
NM_003238.6(TGFB2):c.513T>C (p.Ile171=)	rs1248612292
NM_003238.6(TGFB2):c.543C>G (p.Thr181=)	rs1446432119
NM_003238.6(TGFB2):c.546G>A (p.Gln182=)	rs1553302931
NM_003238.6(TGFB2):c.57C>T (p.Leu19=)	rs1224916923
NM_003238.6(TGFB2):c.582A>G (p.Ala194=)
NM_003238.6(TGFB2):c.600C>T (p.Ser200=)	rs2102626461
NM_003238.6(TGFB2):c.643+11_643+12del
NM_003238.6(TGFB2):c.643+9C>A
NM_003238.6(TGFB2):c.644-17G>C
NM_003238.6(TGFB2):c.651C>T (p.Asn217=)	rs749957893
NM_003238.6(TGFB2):c.663A>G (p.Lys221=)
NM_003238.6(TGFB2):c.754+7A>G
NM_003238.6(TGFB2):c.755-17A>C
NM_003238.6(TGFB2):c.755-18C>T
NM_003238.6(TGFB2):c.755-6T>C
NM_003238.6(TGFB2):c.759T>C (p.Ile253=)
NM_003238.6(TGFB2):c.774A>C (p.Thr258=)
NM_003238.6(TGFB2):c.792G>A (p.Gln264=)	rs2102628465
NM_003238.6(TGFB2):c.795A>G (p.Lys265=)
NM_003238.6(TGFB2):c.810T>G (p.Thr270=)	rs778961900
NM_003238.6(TGFB2):c.81C>A (p.Leu27=)
NM_003238.6(TGFB2):c.828G>A (p.Gly276=)	rs1659959926
NM_003238.6(TGFB2):c.864C>G (p.Ser288=)	rs373646036
NM_003238.6(TGFB2):c.876G>A (p.Glu292=)	rs2102628622
NM_003238.6(TGFB2):c.885G>A (p.Gln295=)
NM_003238.6(TGFB2):c.888C>T (p.Thr296=)
NM_003238.6(TGFB2):c.895C>A (p.Arg299=)	rs863223792
NM_003238.6(TGFB2):c.906T>G (p.Arg302=)
NM_003238.6(TGFB2):c.921C>T (p.Ala307=)	rs2102628692
NM_003238.6(TGFB2):c.924T>C (p.Tyr308=)
NM_003238.6(TGFB2):c.932+16G>A	rs2102628719
NM_003238.6(TGFB2):c.933-14_933-13insG
NM_003238.6(TGFB2):c.933-18T>C
NM_003238.6(TGFB2):c.933-9T>C	rs763680794
NM_003238.6(TGFB2):c.936T>C (p.Asn312=)
NM_003238.6(TGFB2):c.963A>G (p.Pro321=)
NM_003238.6(TGFB2):c.975T>C (p.Asp325=)
NM_003238.6(TGFB2):c.978C>T (p.Phe326=)	rs1405556618
NM_003238.6(TGFB2):c.990A>G (p.Leu330=)

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