ClinVar Miner

List of variants studied for Loeys-Dietz syndrome 1 by Baylor Genetics

Included ClinVar conditions (3):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_004612.4(TGFBR1):c.1446G>T (p.Arg482Ser)	rs1588598651
NM_004612.4(TGFBR1):c.797A>G (p.Asp266Gly)	rs863223819
NM_004612.4(TGFBR1):c.829T>A (p.Trp277Arg)	rs1827647083
NM_004612.4(TGFBR1):c.848A>G (p.His283Arg)	rs1064796037

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