ClinVar Miner

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

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_000093.4(COL5A1):c.61C>T (p.Pro21Ser) rs548525119
NM_000393.4(COL5A2):c.1681G>A (p.Gly561Arg) rs1184276149
NM_001456.3(FLNA):c.6695A>G (p.Lys2232Arg) rs797045581

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