List of variants in gene combination COL3A1, LOC126806446 reported as uncertain significance for Ehlers-Danlos syndrome, type 4

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 21

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HGVS	dbSNP	gnomAD frequency
NM_000090.4(COL3A1):c.2351C>T (p.Ala784Val)	rs370292679	0.00001
NM_000090.4(COL3A1):c.2350G>A (p.Ala784Thr)
NM_000090.4(COL3A1):c.2351C>A (p.Ala784Asp)	rs370292679
NM_000090.4(COL3A1):c.2359C>A (p.Leu787Ile)
NM_000090.4(COL3A1):c.2362C>T (p.Pro788Ser)	rs749803388
NM_000090.4(COL3A1):c.2364A>G (p.Pro788=)	rs886055332
NM_000090.4(COL3A1):c.2369T>C (p.Ile790Thr)	rs1179918994
NM_000090.4(COL3A1):c.2381G>A (p.Arg794His)	rs1332613006
NM_000090.4(COL3A1):c.2381G>C (p.Arg794Pro)
NM_000090.4(COL3A1):c.2381G>T (p.Arg794Leu)
NM_000090.4(COL3A1):c.2388C>G (p.Ser796Arg)
NM_000090.4(COL3A1):c.2389C>T (p.Pro797Ser)
NM_000090.4(COL3A1):c.2392-4T>A
NM_000090.4(COL3A1):c.2392-5T>A
NM_000090.4(COL3A1):c.2396A>T (p.Glu799Val)
NM_000090.4(COL3A1):c.2399G>A (p.Arg800Lys)	rs199564715
NM_000090.4(COL3A1):c.2416C>T (p.Pro806Ser)
NM_000090.4(COL3A1):c.2434C>T (p.Pro812Ser)
NM_000090.4(COL3A1):c.2440G>A (p.Ala814Thr)	rs1688486281
NM_000090.4(COL3A1):c.2441C>T (p.Ala814Val)
NM_000090.4(COL3A1):c.2445+5G>A	rs587779636

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