ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome by Mayo Clinic Genetic Testing Laboratories,Mayo Clinic

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_000393.5(COL5A2):c.1681G>A (p.Gly561Arg) rs1184276149
NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg) rs797045581
NM_001278074.1(COL5A1):c.61C>T (p.Pro21Ser) rs548525119

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