ClinVar Miner

List of variants in gene TGFBR2 reported as pathogenic

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Gene type:
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Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met) rs34833812 0.00034
NM_003242.6(TGFBR2):c.1066C>G (p.Arg356Gly) rs199660234 0.00006
NM_003242.6(TGFBR2):c.761G>A (p.Arg254His) rs751948498 0.00001
NM_003242.6(TGFBR2):c.95-2A>G rs779131465 0.00001
NM_003242.6(TGFBR2):c.1006T>A (p.Tyr336Asn) rs104893812
NM_003242.6(TGFBR2):c.1006T>G (p.Tyr336Asp) rs104893812
NM_003242.6(TGFBR2):c.1058C>T (p.Ser353Phe) rs1553630235
NM_003242.6(TGFBR2):c.1063G>C (p.Ala355Pro) rs104893813
NM_003242.6(TGFBR2):c.1067G>C (p.Arg356Pro) rs727504292
NM_003242.6(TGFBR2):c.1069G>T (p.Gly357Trp) rs104893814
NM_003242.6(TGFBR2):c.1130A>G (p.His377Arg) rs1553630274
NM_003242.6(TGFBR2):c.1133G>A (p.Arg378Lys)
NM_003242.6(TGFBR2):c.1134G>C (p.Arg378Ser) rs1575158079
NM_003242.6(TGFBR2):c.1136A>T (p.Asp379Val) rs886038847
NM_003242.6(TGFBR2):c.1151A>G (p.Asn384Ser) rs193922660
NM_003242.6(TGFBR2):c.1152T>G (p.Asn384Lys) rs193922661
NM_003242.6(TGFBR2):c.1177T>G (p.Cys393Gly) rs2125436754
NM_003242.6(TGFBR2):c.1178G>A (p.Cys393Tyr) rs886039106
NM_003242.6(TGFBR2):c.1240G>A (p.Ala414Thr)
NM_003242.6(TGFBR2):c.1240G>C (p.Ala414Pro) rs2125437095
NM_003242.6(TGFBR2):c.1261A>G (p.Thr421Ala) rs886038787
NM_003242.6(TGFBR2):c.1270T>C (p.Tyr424His) rs1559467821
NM_003242.6(TGFBR2):c.1271A>G (p.Tyr424Cys) rs878854610
NM_003242.6(TGFBR2):c.1273A>C (p.Met425Leu) rs104893817
NM_003242.6(TGFBR2):c.1273A>G (p.Met425Val) rs104893817
NM_003242.6(TGFBR2):c.1273A>T (p.Met425Leu)
NM_003242.6(TGFBR2):c.1276G>A (p.Ala426Thr) rs863223849
NM_003242.6(TGFBR2):c.1277C>A (p.Ala426Asp) rs730880224
NM_003242.6(TGFBR2):c.1280C>T (p.Pro427Leu) rs104893818
NM_003242.6(TGFBR2):c.1285G>T (p.Val429Phe)
NM_003242.6(TGFBR2):c.1301T>A (p.Met434Lys) rs1575158954
NM_003242.6(TGFBR2):c.1307T>C (p.Leu436Ser) rs2125438986
NM_003242.6(TGFBR2):c.1322C>T (p.Ser441Phe)
NM_003242.6(TGFBR2):c.1330C>T (p.Gln444Ter)
NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn) rs886039551
NM_003242.6(TGFBR2):c.1342T>C (p.Tyr448His) rs2125439164
NM_003242.6(TGFBR2):c.1346C>G (p.Ser449Cys) rs104893807
NM_003242.6(TGFBR2):c.1346C>T (p.Ser449Phe) rs104893807
NM_003242.6(TGFBR2):c.1378C>T (p.Arg460Cys) rs104893811
NM_003242.6(TGFBR2):c.1379G>A (p.Arg460His) rs104893816
NM_003242.6(TGFBR2):c.1379G>C (p.Arg460Pro) rs104893816
NM_003242.6(TGFBR2):c.1379G>T (p.Arg460Leu) rs104893816
NM_003242.6(TGFBR2):c.1381T>C (p.Cys461Arg) rs1553630457
NM_003242.6(TGFBR2):c.1397-1G>A rs1553631693
NM_003242.6(TGFBR2):c.1397-2A>G rs587776770
NM_003242.6(TGFBR2):c.1408T>G (p.Tyr470Asp) rs863224935
NM_003242.6(TGFBR2):c.1409A>G (p.Tyr470Cys) rs760797386
NM_003242.6(TGFBR2):c.1447del (p.Cys483fs) rs2125451831
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter) rs104893819
NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter) rs863223852
NM_003242.6(TGFBR2):c.1511G>A (p.Trp504Ter)
NM_003242.6(TGFBR2):c.1512G>A (p.Trp504Ter) rs1575165272
NM_003242.6(TGFBR2):c.1524+1G>A rs727503475
NM_003242.6(TGFBR2):c.1524+1G>T rs727503475
NM_003242.6(TGFBR2):c.1524G>A (p.Gln508=) rs121918715
NM_003242.6(TGFBR2):c.1558T>C (p.Cys520Arg) rs2125455193
NM_003242.6(TGFBR2):c.1561T>C (p.Trp521Arg) rs1575166666
NM_003242.6(TGFBR2):c.1564G>A (p.Asp522Asn) rs863223854
NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn) rs727504421
NM_003242.6(TGFBR2):c.1576G>C (p.Glu526Gln) rs121918714
NM_003242.6(TGFBR2):c.1580C>T (p.Ala527Val) rs727503476
NM_003242.6(TGFBR2):c.1582C>A (p.Arg528Ser) rs104893810
NM_003242.6(TGFBR2):c.1582C>T (p.Arg528Cys) rs104893810
NM_003242.6(TGFBR2):c.1583G>A (p.Arg528His) rs104893815
NM_003242.6(TGFBR2):c.1601_1602dup (p.Ala535fs) rs587776769
NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys) rs104893809
NM_003242.6(TGFBR2):c.1610G>C (p.Arg537Pro) rs1057524810
NM_003242.6(TGFBR2):c.760C>T (p.Arg254Cys) rs863223856
NM_003242.6(TGFBR2):c.831G>C (p.Lys277Asn)
NM_003242.6(TGFBR2):c.831G>T (p.Lys277Asn) rs886038794
NM_003242.6(TGFBR2):c.859T>C (p.Trp287Arg) rs727503472
NM_003242.6(TGFBR2):c.913C>T (p.Leu305Phe) rs1553630171
NM_003242.6(TGFBR2):c.914T>A (p.Leu305His) rs1553630174
NM_003242.6(TGFBR2):c.923T>C (p.Leu308Pro) rs28934568
NM_003242.6(TGFBR2):c.961T>G (p.Tyr321Asp) rs1699352567

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