List of variants in gene TGFBR2 reported as uncertain significance by GeneDx

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: 102

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HGVS	dbSNP	gnomAD frequency
NM_003242.6(TGFBR2):c.4G>T (p.Gly2Cys)	rs565502802	0.00021
NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu)	rs768385200	0.00010
NM_003242.6(TGFBR2):c.937C>T (p.Arg313Trp)	rs55751315	0.00006
NM_003242.6(TGFBR2):c.689C>T (p.Thr230Met)	rs150116445	0.00005
NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp)	rs761991787	0.00004
NM_003242.6(TGFBR2):c.116C>A (p.Thr39Asn)	rs146277116	0.00004
NM_003242.6(TGFBR2):c.511A>G (p.Ser171Gly)	rs767581059	0.00004
NM_003242.6(TGFBR2):c.617C>T (p.Thr206Met)	rs150022335	0.00004
NM_003242.6(TGFBR2):c.620G>A (p.Arg207Gln)	rs371209879	0.00004
NM_003242.6(TGFBR2):c.938G>A (p.Arg313Gln)	rs200361387	0.00004
NM_003242.6(TGFBR2):c.94+16260C>A	rs113474008	0.00004
NM_003242.6(TGFBR2):c.95-3C>A	rs375330013	0.00004
NM_003242.6(TGFBR2):c.569G>A (p.Arg190His)	rs780542125	0.00003
NM_003242.6(TGFBR2):c.64A>T (p.Ser22Cys)	rs767407566	0.00003
NM_003242.6(TGFBR2):c.671G>A (p.Arg224His)	rs112465572	0.00003
NM_003242.6(TGFBR2):c.94+16273G>A	rs781529108	0.00003
NM_003242.6(TGFBR2):c.94+16278G>C	rs557449314	0.00003
NM_003242.6(TGFBR2):c.1043G>A (p.Arg348His)	rs369450067	0.00002
NM_003242.6(TGFBR2):c.1063G>A (p.Ala355Thr)	rs104893813	0.00002
NM_003242.6(TGFBR2):c.-27G>C	rs1469986980	0.00001
NM_003242.6(TGFBR2):c.1153A>G (p.Ile385Val)	rs137908708	0.00001
NM_003242.6(TGFBR2):c.115A>T (p.Thr39Ser)	rs780280433	0.00001
NM_003242.6(TGFBR2):c.1207C>T (p.Arg403Cys)	rs886038960	0.00001
NM_003242.6(TGFBR2):c.1217C>T (p.Pro406Leu)	rs748480163	0.00001
NM_003242.6(TGFBR2):c.1435C>T (p.Arg479Trp)	rs1444024775	0.00001
NM_003242.6(TGFBR2):c.1471G>A (p.Val491Met)	rs754176932	0.00001
NM_003242.6(TGFBR2):c.1546A>T (p.Thr516Ser)	rs370708687	0.00001
NM_003242.6(TGFBR2):c.1643C>T (p.Ser548Leu)	rs755070814	0.00001
NM_003242.6(TGFBR2):c.1658C>T (p.Ser553Leu)	rs569635708	0.00001
NM_003242.6(TGFBR2):c.1681G>A (p.Gly561Ser)	rs768103695	0.00001
NM_003242.6(TGFBR2):c.412T>G (p.Cys138Gly)	rs863223838	0.00001
NM_003242.6(TGFBR2):c.556T>A (p.Phe186Ile)	rs368346624	0.00001
NM_003242.6(TGFBR2):c.610G>A (p.Gly204Ser)	rs773431795	0.00001
NM_003242.6(TGFBR2):c.76C>T (p.Pro26Ser)	rs764160271	0.00001
NM_003242.6(TGFBR2):c.94+16293C>A	rs138262219	0.00001
NM_003242.6(TGFBR2):c.94+6T>G	rs1269699495	0.00001
NM_003242.6(TGFBR2):c.1016G>T (p.Arg339Leu)	rs727503473
NM_003242.6(TGFBR2):c.1121C>T (p.Pro374Leu)	rs1057524399
NM_003242.6(TGFBR2):c.1126G>A (p.Val376Met)	rs755967723
NM_003242.6(TGFBR2):c.1129C>G (p.His377Asp)
NM_003242.6(TGFBR2):c.1145G>A (p.Ser382Asn)	rs863223844
NM_003242.6(TGFBR2):c.1151A>G (p.Asn384Ser)	rs193922660
NM_003242.6(TGFBR2):c.1184T>A (p.Leu395Gln)	rs2125436781
NM_003242.6(TGFBR2):c.1190A>G (p.Asp397Gly)	rs863223846
NM_003242.6(TGFBR2):c.1202C>T (p.Ser401Phe)	rs1575158141
NM_003242.6(TGFBR2):c.1220C>T (p.Thr407Ile)
NM_003242.6(TGFBR2):c.1265C>A (p.Ala422Glu)	rs1699390424
NM_003242.6(TGFBR2):c.1289T>C (p.Leu430Pro)	rs1371233083
NM_003242.6(TGFBR2):c.1302G>A (p.Met434Ile)
NM_003242.6(TGFBR2):c.1307T>C (p.Leu436Ser)	rs2125438986
NM_003242.6(TGFBR2):c.1324T>C (p.Phe442Leu)	rs2125439063
NM_003242.6(TGFBR2):c.1368A>C (p.Glu456Asp)	rs2125439314
NM_003242.6(TGFBR2):c.136A>T (p.Lys46Ter)	rs1553627148
NM_003242.6(TGFBR2):c.1393G>T (p.Gly465Ter)
NM_003242.6(TGFBR2):c.1410T>G (p.Tyr470Ter)	rs1553631696
NM_003242.6(TGFBR2):c.1417C>T (p.Pro473Ser)	rs2125451665
NM_003242.6(TGFBR2):c.1418C>T (p.Pro473Leu)	rs397516839
NM_003242.6(TGFBR2):c.1436G>A (p.Arg479Gln)	rs1553631704
NM_003242.6(TGFBR2):c.1436G>T (p.Arg479Leu)	rs1553631704
NM_003242.6(TGFBR2):c.1487G>A (p.Gly496Glu)	rs2125452105
NM_003242.6(TGFBR2):c.1490G>A (p.Arg497Gln)	rs200958264
NM_003242.6(TGFBR2):c.1518C>A (p.Asn506Lys)	rs2125452270
NM_003242.6(TGFBR2):c.1526G>T (p.Gly509Val)	rs863223853
NM_003242.6(TGFBR2):c.1564G>A (p.Asp522Asn)	rs863223854
NM_003242.6(TGFBR2):c.1573C>T (p.Pro525Ser)	rs2125455256
NM_003242.6(TGFBR2):c.1591G>A (p.Ala531Thr)	rs727503477
NM_003242.6(TGFBR2):c.1680C>G (p.Asp560Glu)	rs376815143
NM_003242.6(TGFBR2):c.182G>A (p.Cys61Tyr)	rs2125404783
NM_003242.6(TGFBR2):c.296C>T (p.Thr99Ile)	rs863223837
NM_003242.6(TGFBR2):c.326A>T (p.His109Leu)	rs1553627759
NM_003242.6(TGFBR2):c.413dup (p.Cys138fs)
NM_003242.6(TGFBR2):c.42C>G (p.Ile14Met)	rs1697933283
NM_003242.6(TGFBR2):c.454G>A (p.Glu152Lys)	rs778675253
NM_003242.6(TGFBR2):c.455-2del	rs863223855
NM_003242.6(TGFBR2):c.470A>G (p.Asn157Ser)
NM_003242.6(TGFBR2):c.498A>G (p.Gln166=)	rs1699339065
NM_003242.6(TGFBR2):c.533T>A (p.Val178Asp)	rs1553630079
NM_003242.6(TGFBR2):c.538A>C (p.Ile180Leu)	rs1699340728
NM_003242.6(TGFBR2):c.538A>G (p.Ile180Val)	rs1699340728
NM_003242.6(TGFBR2):c.551T>A (p.Ile184Asn)	rs863223839
NM_003242.6(TGFBR2):c.554TCT[1] (p.Phe186del)	rs1699341292
NM_003242.6(TGFBR2):c.56G>T (p.Arg19Leu)	rs763085648
NM_003242.6(TGFBR2):c.625C>T (p.Leu209Phe)	rs1288771489
NM_003242.6(TGFBR2):c.631G>A (p.Glu211Lys)	rs2125433766
NM_003242.6(TGFBR2):c.659T>C (p.Leu220Pro)	rs1553630112
NM_003242.6(TGFBR2):c.701A>T (p.Asn234Ile)	rs863223840
NM_003242.6(TGFBR2):c.70A>T (p.Ile24Phe)	rs1697934054
NM_003242.6(TGFBR2):c.760C>T (p.Arg254Cys)	rs863223856
NM_003242.6(TGFBR2):c.770A>G (p.Glu257Gly)	rs2125434288
NM_003242.6(TGFBR2):c.805G>T (p.Glu269Ter)	rs1699347759
NM_003242.6(TGFBR2):c.823G>T (p.Ala275Ser)	rs757521476
NM_003242.6(TGFBR2):c.845_853del (p.Glu282_Tyr284del)	rs1085307498
NM_003242.6(TGFBR2):c.902A>G (p.His301Arg)	rs863223857
NM_003242.6(TGFBR2):c.908A>G (p.Asn303Ser)	rs2125435026
NM_003242.6(TGFBR2):c.914T>A (p.Leu305His)	rs1553630174
NM_003242.6(TGFBR2):c.938G>T (p.Arg313Leu)	rs200361387
NM_003242.6(TGFBR2):c.94+16260C>G	rs113474008
NM_003242.6(TGFBR2):c.94+16260C>T	rs113474008
NM_003242.6(TGFBR2):c.94+16282A>G
NM_003242.6(TGFBR2):c.964T>G (p.Trp322Gly)	rs863223858
NM_003242.6(TGFBR2):c.967C>G (p.Leu323Val)	rs781018006
NM_003242.6(TGFBR2):c.968T>G (p.Leu323Arg)	rs1699353079

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