List of variants in gene COL18A1 reported as uncertain significance by GeneDx

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: 22

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HGVS	dbSNP	gnomAD frequency
NM_001379500.1(COL18A1):c.107-11498C>T	rs549345311	0.00107
NM_001379500.1(COL18A1):c.107-12197G>A	rs200284308	0.00063
NM_001379500.1(COL18A1):c.1687G>A (p.Ala563Thr)	rs201476017	0.00029
NM_001379500.1(COL18A1):c.1261C>T (p.Pro421Ser)	rs375265466	0.00019
NM_001379500.1(COL18A1):c.613G>A (p.Val205Met)	rs201116208	0.00014
NM_001379500.1(COL18A1):c.107-11514G>A	rs780737161	0.00013
NM_001379500.1(COL18A1):c.2056C>T (p.Arg686Trp)	rs747007399	0.00008
NM_001379500.1(COL18A1):c.1043C>T (p.Pro348Leu)	rs372859456	0.00004
NM_001379500.1(COL18A1):c.221C>G (p.Ala74Gly)	rs761177952	0.00004
NM_001379500.1(COL18A1):c.2428C>T (p.Arg810Trp)	rs764129709	0.00004
NM_001379500.1(COL18A1):c.107-11405C>T	rs558767689	0.00002
NM_001379500.1(COL18A1):c.979C>T (p.Arg327Trp)	rs551388856	0.00002
NM_001379500.1(COL18A1):c.107-12491C>T	rs749001958	0.00001
NM_001379500.1(COL18A1):c.1216G>A (p.Glu406Lys)	rs766573503	0.00001
NM_001379500.1(COL18A1):c.1856G>A (p.Gly619Glu)	rs751553488	0.00001
NM_001379500.1(COL18A1):c.107-11432G>A
NM_001379500.1(COL18A1):c.107-11594G>C	rs559500998
NM_001379500.1(COL18A1):c.107-12112_107-12111delinsTT	rs1555853999
NM_001379500.1(COL18A1):c.2539C>T (p.Pro847Ser)
NM_001379500.1(COL18A1):c.352A>C (p.Met118Leu)	rs200702024
NM_001379500.1(COL18A1):c.623C>T (p.Ala208Val)	rs773440175
NM_001379500.1(COL18A1):c.830C>T (p.Pro277Leu)

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