ClinVar Miner

List of variants reported for Loeys-Dietz syndrome by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637 0.00210
NM_000093.5(COL5A1):c.4748C>T (p.Thr1583Met) rs375076580 0.00007
NM_000138.5(FBN1):c.3217G>A (p.Glu1073Lys) rs137854478
NM_000138.5(FBN1):c.7048A>G (p.Ile2350Val) rs794728263
NM_001999.4(FBN2):c.2392G>A (p.Gly798Ser) rs1554063781
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_004612.4(TGFBR1):c.1058G>T (p.Gly353Val) rs1554701911
NM_004612.4(TGFBR1):c.757A>G (p.Met253Val) rs886038919

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