ClinVar Miner

List of variants reported as likely pathogenic for Loeys-Dietz syndrome 1

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Total variants: 5
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NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn) rs886039551
NM_004612.4(TGFBR1):c.1061T>C (p.Leu354Pro) rs1554701914
NM_004612.4(TGFBR1):c.640G>A (p.Gly214Ser) rs727503470
NM_004612.4(TGFBR1):c.735G>C (p.Glu245Asp) rs1588585506
NM_004612.4(TGFBR1):c.763C>T (p.Arg255Cys) rs1588585570

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