ClinVar Miner

List of variants reported as uncertain significance for Ehlers-Danlos syndrome by New York Genome Center

Included ClinVar conditions (71):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000302.4(PLOD1):c.137G>A (p.Arg46His) rs142710681 0.00105
NM_001367624.2(ZNF469):c.7102G>A (p.Gly2368Ser) rs533944505 0.00078
NM_001367624.2(ZNF469):c.8996G>T (p.Gly2999Val) rs273585625 0.00034
NM_004370.6(COL12A1):c.5839C>A (p.Pro1947Thr) rs191233787 0.00021
NM_001110556.2(FLNA):c.7834C>T (p.Arg2612Trp) rs781864075 0.00003
NM_000093.5(COL5A1):c.1052C>A (p.Pro351Gln) rs887190843
NM_001110556.2(FLNA):c.382G>A (p.Ala128Thr)
NM_001110556.2(FLNA):c.4403C>T (p.Pro1468Leu) rs2067683771
NM_001110556.2(FLNA):c.5861-4C>G
NM_004370.6(COL12A1):c.6961A>G (p.Lys2321Glu) rs1765724096

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