ClinVar Miner

List of variants in gene C1S studied for Ehlers-Danlos syndrome

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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NM_001734.5(C1S):c.514G>A (p.Gly172Arg) rs375308014
NM_001734.5(C1S):c.880T>C (p.Cys294Arg) rs886040975
NM_001734.5(C1S):c.943G>A (p.Asp315Asn) rs117907409
NM_001734.5(C1S):c.945_947del (p.Asp315_Val316delinsGlu) rs886040974

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