ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, classic type by Center for Human Genetics, Inc, Center for Human Genetics, Inc

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.574G>A (p.Asp192Asn) rs138579182 0.02227
NM_000393.5(COL5A2):c.370-16C>T rs148220961 0.00748
NM_000093.5(COL5A1):c.787-15G>A rs150200872 0.00704
NM_000393.5(COL5A2):c.2554-14A>G rs142429770 0.00703
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175 0.00525
NM_000093.5(COL5A1):c.3991G>A (p.Asp1331Asn) rs545973022 0.00033
NM_000093.5(COL5A1):c.2331+16G>A rs199654385 0.00028
NM_000093.5(COL5A1):c.4240G>A (p.Gly1414Ser) rs776709663 0.00003
NM_000093.5(COL5A1):c.492-3C>T rs1027866868 0.00001
NM_000393.5(COL5A2):c.3854C>T (p.Pro1285Leu) rs867460091
NM_000393.5(COL5A2):c.4409C>T (p.Ala1470Val) rs140109751

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