ClinVar Miner

List of variants reported as likely pathogenic for Loeys-Dietz syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_003239.5(TGFB3):c.488G>A (p.Arg163Gln) rs920721092 0.00002
NM_003238.6(TGFB2):c.547C>T (p.Arg183Cys) rs1436552875 0.00001
NM_003239.5(TGFB3):c.463C>T (p.Arg155Trp) rs868258653 0.00001
NM_003239.5(TGFB3):c.487C>T (p.Arg163Trp) rs142601521 0.00001
NM_003239.5(TGFB3):c.965T>C (p.Ile322Thr) rs762643638 0.00001
NC_000001.10:g.(?_218578491)_(218614704_?)del
NC_000001.10:g.(?_218578501)_(218610848_?)del
NC_000001.11:g.(?_218405159)_(218405342_?)dup
NC_000001.11:g.(?_218405159)_(218444629_?)del
NC_000001.11:g.(?_218435960)_(218437506_?)del
NC_000001.11:g.(?_218441194)_(218444629_?)del
NC_000014.8:g.(?_76425530)_(76432058_?)del
NC_000014.9:g.(?_75958692)_(75965705_?)del
NC_000014.9:g.(?_75958692)_(75971728_?)del
NM_003238.6(TGFB2):c.1049G>A (p.Cys350Tyr) rs1558264109
NM_003238.6(TGFB2):c.346+1G>A rs1553292145
NM_003238.6(TGFB2):c.346+1G>T rs1553292145
NM_003238.6(TGFB2):c.755-5_755-2delinsG rs1553303161
NM_003238.6(TGFB2):c.921_932+4del
NM_003238.6(TGFB2):c.933-1G>A
NM_003238.6(TGFB2):c.933-2A>C
NM_003239.5(TGFB3):c.1081-1G>A
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>C
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.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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