List of variants in gene combination COL5A1, LOC101448202 reported as uncertain significance for Ehlers-Danlos syndrome, classic type

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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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.5137-8C>T	rs374377228	0.00017
NM_000093.5(COL5A1):c.4892C>T (p.Thr1631Met)	rs764446683	0.00006
NM_000093.5(COL5A1):c.5348G>A (p.Arg1783His)	rs777045810	0.00006
NM_000093.5(COL5A1):c.4909C>T (p.Arg1637Cys)	rs753433375	0.00003
NM_000093.5(COL5A1):c.4739C>T (p.Ala1580Val)	rs528826181	0.00002
NM_000093.5(COL5A1):c.4753C>T (p.Arg1585Trp)	rs546865410	0.00002
NM_000093.5(COL5A1):c.4879C>T (p.Arg1627Trp)	rs558906147	0.00002
NM_000093.5(COL5A1):c.5371-8T>C	rs1352923765	0.00002
NC_000009.11:g.(?_137721802)_(137734169_?)dup
NC_000009.12:g.(?_134842137)_(134842323_?)del
NM_000093.5(COL5A1):c.4447G>T (p.Gly1483Cys)	rs1554806963
NM_000093.5(COL5A1):c.5473C>T (p.Gln1825Ter)	rs1057518004

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