ClinVar Miner

List of variants studied for Loeys-Dietz syndrome by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (29):
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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_005902.4(SMAD3):c.334G>A (p.Ala112Thr) rs770798158 0.00002
NM_000138.5(FBN1):c.4250A>G (p.Asn1417Ser) rs768531262 0.00001
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser) rs760079636 0.00001
NM_000138.5(FBN1):c.1546C>T (p.Arg516Ter) rs113812345
NM_000138.5(FBN1):c.2207A>G (p.Asn736Ser) rs1566912242
NM_000138.5(FBN1):c.2929A>G (p.Met977Val) rs776833421
NM_000138.5(FBN1):c.3302A>G (p.Tyr1101Cys) rs1555398625
NM_000138.5(FBN1):c.3539G>A (p.Cys1180Tyr) rs1555398513
NM_000138.5(FBN1):c.3589+3A>G rs2043513649
NM_000138.5(FBN1):c.3838G>A (p.Asp1280Asn) rs794728210
NM_000138.5(FBN1):c.4120T>G (p.Cys1374Gly) rs2141279837
NM_000138.5(FBN1):c.5087A>G (p.Tyr1696Cys) rs387906625
NM_000138.5(FBN1):c.5581A>C (p.Ser1861Arg) rs2141252219
NM_000138.5(FBN1):c.5741G>A (p.Cys1914Tyr)
NM_000138.5(FBN1):c.5861T>G (p.Phe1954Cys) rs730880104
NM_000138.5(FBN1):c.5885dup (p.Tyr1962Ter)
NM_000138.5(FBN1):c.6431A>G (p.Asn2144Ser) rs137854461
NM_000138.5(FBN1):c.6964delinsGG (p.Phe2322fs)
NM_000138.5(FBN1):c.7087T>G (p.Cys2363Gly) rs1597517935
NM_000138.5(FBN1):c.7399del (p.Gln2467fs) rs2042971434
NM_000138.5(FBN1):c.7726C>T (p.Arg2576Cys) rs147195031
NM_003242.6(TGFBR2):c.860G>C (p.Trp287Ser) rs2125434732
NM_005902.4(SMAD3):c.170C>G (p.Thr57Arg)
NM_005902.4(SMAD3):c.304G>A (p.Glu102Lys) rs1962537574
NM_005902.4(SMAD3):c.304G>T (p.Glu102Ter) rs1962537574

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