ClinVar Miner

List of variants reported as uncertain significance for Loeys-Dietz syndrome 2 by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_003242.6(TGFBR2):c.1471G>A (p.Val491Met)	rs754176932	0.00001
NM_003242.6(TGFBR2):c.1595A>G (p.Gln532Arg)
NM_003242.6(TGFBR2):c.383dup (p.Pro129fs)	rs79375991

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