ClinVar Miner

List of variants reported as uncertain significance for Loeys-Dietz syndrome 1 by Revvity Omics, Revvity

Included ClinVar conditions (3):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser)	rs141259922	0.00036
NM_004612.4(TGFBR1):c.88G>C (p.Gly30Arg)	rs1826374374	0.00001
NM_004612.4(TGFBR1):c.763C>T (p.Arg255Cys)	rs1588585570

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