List of variants in gene TGFBR1 reported as uncertain significance by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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

Total variants: 18

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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.929C>T (p.Ala310Val)	rs202010361	0.00005
NM_004612.4(TGFBR1):c.134A>G (p.Asn45Ser)	rs387906696	0.00003
NM_004612.4(TGFBR1):c.292A>T (p.Thr98Ser)	rs780295872	0.00002
NM_004612.4(TGFBR1):c.613A>G (p.Ile205Val)	rs200018073	0.00002
NM_004612.4(TGFBR1):c.65C>T (p.Ala22Val)	rs1260360529	0.00001
NM_004612.4(TGFBR1):c.718C>T (p.Arg240Cys)	rs775429965	0.00001
NM_004612.4(TGFBR1):c.1135A>G (p.Met379Val)	rs1554702207
NM_004612.4(TGFBR1):c.1180G>A (p.Glu394Lys)	rs1564174278
NM_004612.4(TGFBR1):c.1216T>A (p.Leu406Ile)	rs200062984
NM_004612.4(TGFBR1):c.1322T>A (p.Met441Lys)	rs1554702474
NM_004612.4(TGFBR1):c.1387-11T>G
NM_004612.4(TGFBR1):c.1439_1440insT (p.Ala481fs)	rs1827901042
NM_004612.4(TGFBR1):c.1445G>C (p.Arg482Thr)	rs2118857131
NM_004612.4(TGFBR1):c.52GCG[11] (p.Ala25_Ala26dup)	rs11466445
NM_004612.4(TGFBR1):c.581C>T (p.Pro194Leu)
NM_004612.4(TGFBR1):c.952A>G (p.Met318Val)	rs752190665
NM_004612.4(TGFBR1):c.98-4C>A	rs1554698879

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