ClinVar Miner

List of variants in gene TGFB3 studied for Loeys-Dietz syndrome 4

Included ClinVar conditions (1):

Loeys-Dietz syndrome 4

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_003239.5(TGFB3):c.729C>T (p.His243=)	rs746620931	0.00001
NC_000014.9:g.(?_75958692)_(75980923_?)del
NM_003239.5(TGFB3):c.810G>A (p.Gln270=)	rs1595339194
NM_003239.5(TGFB3):c.926+9G>A	rs771442662

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