ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome by Counsyl

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_014244.5(ADAMTS2):c.130_131insCCA (p.Asp44delinsAlaAsn) rs1554100033
NM_014244.5(ADAMTS2):c.1638dup (p.Lys547Ter) rs1554125059
NM_014244.5(ADAMTS2):c.2384G>A (p.Trp795Ter) rs137853147
NM_014244.5(ADAMTS2):c.2458-6_2458del rs1057517277
NM_014244.5(ADAMTS2):c.3070del (p.Arg1024fs) rs1554123627
NM_014244.5(ADAMTS2):c.44_45insACT (p.Leu23dup) rs540605802
NM_014244.5(ADAMTS2):c.673C>T (p.Gln225Ter) rs137853146

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