ClinVar Miner

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

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_001110556.2(FLNA):c.1429+8C>T rs202181557
NM_001110556.2(FLNA):c.1850C>T (p.Ser617Leu) rs782193139
NM_001110556.2(FLNA):c.2023-6C>T rs372021340
NM_001110556.2(FLNA):c.4060G>A (p.Asp1354Asn) rs377390031
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356
NM_001110556.2(FLNA):c.623-20_623-12del rs786205200

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