ClinVar Miner

List of variants reported as pathogenic for Ehlers-Danlos syndrome by Claritas Genomics

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_001110556.2(FLNA):c.1430-1G>T rs786205177
NM_001110556.2(FLNA):c.1829-2A>G rs786205183
NM_001110556.2(FLNA):c.2565+1G>C rs786205186
NM_001110556.2(FLNA):c.4446_4447dup (p.Leu1483fs) rs398123620
NM_001110556.2(FLNA):c.544C>T (p.Gln182Ter) rs137853310
NM_001110556.2(FLNA):c.6355_6356del (p.Lys2119fs) rs786205201
NM_001110556.2(FLNA):c.6635_6638del (p.Val2212fs) rs786205178
NM_001110556.2(FLNA):c.7896G>A (p.Trp2632Ter) rs398122812

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