ClinVar Miner

List of variants in gene TGFBR2 reported as pathogenic

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Total variants: 39
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HGVS dbSNP
NM_001024847.2(TGFBR2):c.1456T>C (p.Cys486Arg) rs1553630457
NM_001024847.2(TGFBR2):c.1472-2A>G rs587776770
NM_001024847.2(TGFBR2):c.1599G>A (p.Gln533=) rs121918715
NM_001024847.2(TGFBR2):c.1676_1677dup (p.Ala560Trpfs) rs587776769
NM_003242.5(TGFBR2):c.1006T>A (p.Tyr336Asn) rs104893812
NM_003242.5(TGFBR2):c.1063G>C (p.Ala355Pro) rs104893813
NM_003242.5(TGFBR2):c.1066C>G (p.Arg356Gly) rs199660234
NM_003242.5(TGFBR2):c.1067G>C (p.Arg356Pro) rs727504292
NM_003242.5(TGFBR2):c.1069G>T (p.Gly357Trp) rs104893814
NM_003242.5(TGFBR2):c.1136A>T (p.Asp379Val) rs886038847
NM_003242.5(TGFBR2):c.1178G>A (p.Cys393Tyr) rs886039106
NM_003242.5(TGFBR2):c.1261A>G (p.Thr421Ala) rs886038787
NM_003242.5(TGFBR2):c.1271A>G (p.Tyr424Cys) rs878854610
NM_003242.5(TGFBR2):c.1273A>G (p.Met425Val) rs104893817
NM_003242.5(TGFBR2):c.1276G>A (p.Ala426Thr) rs863223849
NM_003242.5(TGFBR2):c.1277C>A (p.Ala426Asp) rs730880224
NM_003242.5(TGFBR2):c.1279C>T (p.Pro427Ser) rs863223850
NM_003242.5(TGFBR2):c.1280C>T (p.Pro427Leu) rs104893818
NM_003242.5(TGFBR2):c.1336G>A (p.Asp446Asn) rs886039551
NM_003242.5(TGFBR2):c.1346C>G (p.Ser449Cys) rs104893807
NM_003242.5(TGFBR2):c.1346C>T (p.Ser449Phe) rs104893807
NM_003242.5(TGFBR2):c.1378C>T (p.Arg460Cys) rs104893811
NM_003242.5(TGFBR2):c.1379G>A (p.Arg460His) rs104893816
NM_003242.5(TGFBR2):c.1379G>T (p.Arg460Leu) rs104893816
NM_003242.5(TGFBR2):c.1397-1G>A rs1553631693
NM_003242.5(TGFBR2):c.1408T>G (p.Tyr470Asp) rs863224935
NM_003242.5(TGFBR2):c.1483C>T (p.Arg495Ter) rs104893819
NM_003242.5(TGFBR2):c.1489C>T (p.Arg497Ter) rs863223852
NM_003242.5(TGFBR2):c.1524+1G>T rs727503475
NM_003242.5(TGFBR2):c.1526G>T (p.Gly509Val) rs863223853
NM_003242.5(TGFBR2):c.1570G>A (p.Asp524Asn) rs727504421
NM_003242.5(TGFBR2):c.1576G>C (p.Glu526Gln) rs121918714
NM_003242.5(TGFBR2):c.1582C>T (p.Arg528Cys) rs104893810
NM_003242.5(TGFBR2):c.1583G>A (p.Arg528His) rs104893815
NM_003242.5(TGFBR2):c.1609C>T (p.Arg537Cys) rs104893809
NM_003242.5(TGFBR2):c.831G>T (p.Lys277Asn) rs886038794
NM_003242.5(TGFBR2):c.923T>C (p.Leu308Pro) rs28934568
NM_003242.5(TGFBR2):c.944C>T (p.Thr315Met) rs34833812
TGFBR2, IVS1, A-G, -2

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