ClinVar Miner

List of variants in gene TGFBR2 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_003242.6(TGFBR2):c.*858C>T rs142745018 0.00443
NM_003242.6(TGFBR2):c.*1886G>T rs11466535 0.00188
NM_003242.6(TGFBR2):c.1602G>A (p.Val534=) rs140818646 0.00166
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192 0.00130
NM_003242.6(TGFBR2):c.*2066G>A rs566913021 0.00116
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr) rs112215250 0.00115
NM_003242.6(TGFBR2):c.94+16245G>A rs61732532 0.00111
NM_003242.6(TGFBR2):c.1458C>T (p.Ser486=) rs139881155 0.00075
NM_003242.6(TGFBR2):c.*443A>G rs188599299 0.00065
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met) rs34833812 0.00034
NM_003242.6(TGFBR2):c.984C>T (p.His328=) rs193922666 0.00018
NM_003242.6(TGFBR2):c.1013C>T (p.Thr338Met) rs752866783 0.00007
NM_003242.6(TGFBR2):c.570C>T (p.Arg190=) rs143775631 0.00006
NM_003242.6(TGFBR2):c.1587C>T (p.Leu529=) rs761435905 0.00004
NM_003242.6(TGFBR2):c.620G>A (p.Arg207Gln) rs371209879 0.00004
NM_003242.6(TGFBR2):c.-59C>G rs1002352692 0.00003
NM_003242.6(TGFBR2):c.690G>A (p.Thr230=) rs201560560 0.00003
NM_003242.6(TGFBR2):c.927G>A (p.Thr309=) rs756625146 0.00002
NM_003242.6(TGFBR2):c.1116G>A (p.Lys372=) rs753782498 0.00001
NM_003242.6(TGFBR2):c.6T>C (p.Gly2=) rs758864131 0.00001
NM_003242.6(TGFBR2):c.95-2A>G rs779131465 0.00001
NM_003242.6(TGFBR2):c.*330_*331del rs561991238
NM_003242.6(TGFBR2):c.1032G>A (p.Trp344Ter)
NM_003242.6(TGFBR2):c.1082T>C (p.Leu361Pro)
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003242.6(TGFBR2):c.1241C>T (p.Ala414Val) rs1699361288
NM_003242.6(TGFBR2):c.1401A>G (p.Val467=) rs2125451595
NM_003242.6(TGFBR2):c.1490G>A (p.Arg497Gln) rs200958264
NM_003242.6(TGFBR2):c.1492C>T (p.Pro498Ser) rs1553631720
NM_003242.6(TGFBR2):c.1506C>G (p.Ser502Arg)
NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn) rs727504421
NM_003242.6(TGFBR2):c.1653_1665del (p.Ser551fs)
NM_003242.6(TGFBR2):c.33G>T (p.Pro11=) rs1575125895
NM_003242.6(TGFBR2):c.390T>G (p.Gly130=)
NM_003242.6(TGFBR2):c.455-5A>G rs747104789
NM_003242.6(TGFBR2):c.757G>A (p.Gly253Ser) rs1559466824
NM_003242.6(TGFBR2):c.94+16256C>T rs143701368
NM_003242.6(TGFBR2):c.94+7G>C
NM_003242.6(TGFBR2):c.95-3C>T rs375330013

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