ClinVar Miner

List of variants in gene TGFB3 reported as likely pathogenic for Marfan and Marfan-related disorder

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_003239.5(TGFB3):c.488G>A (p.Arg163Gln) rs920721092 0.00002
NM_003239.5(TGFB3):c.463C>T (p.Arg155Trp) rs868258653 0.00001
NM_003239.5(TGFB3):c.965T>C (p.Ile322Thr) rs762643638 0.00001
NC_000014.8:g.(?_76425530)_(76432058_?)del
NM_003239.5(TGFB3):c.1034C>G (p.Ser345Ter) rs1060502827
NM_003239.5(TGFB3):c.1081-1G>A
NM_003239.5(TGFB3):c.1102_1105del (p.Leu368fs) rs1555360047
NM_003239.5(TGFB3):c.1195G>T (p.Glu399Ter) rs1555360027
NM_003239.5(TGFB3):c.1202T>C (p.Leu401Pro)
NM_003239.5(TGFB3):c.353-1G>C rs1555360883
NM_003239.5(TGFB3):c.397C>T (p.Arg133Cys)
NM_003239.5(TGFB3):c.517-1G>C rs1566682530
NM_003239.5(TGFB3):c.517-2A>G rs2035287906
NM_003239.5(TGFB3):c.646+1G>T
NM_003239.5(TGFB3):c.754+1G>A
NM_003239.5(TGFB3):c.755-1G>A
NM_003239.5(TGFB3):c.884del (p.Gly295fs)
NM_003239.5(TGFB3):c.916del (p.Tyr306fs) rs1555360362
NM_003239.5(TGFB3):c.926+1G>A rs2035180096
NM_003239.5(TGFB3):c.926+1G>T rs2035180096
NM_003239.5(TGFB3):c.927-1G>C rs767548724
NM_003239.5(TGFB3):c.952C>T (p.Arg318Cys) rs2140236263

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