ClinVar Miner

List of variants in gene SGCD reported as likely pathogenic by Counsyl

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000337.6(SGCD):c.192+1G>A rs1267810339
NM_000337.6(SGCD):c.294+1G>A rs727503422
NM_000337.6(SGCD):c.618del (p.Gly207fs) rs1554137109
NM_000337.6(SGCD):c.663C>A (p.Cys221Ter) rs1175344271
NM_000337.6(SGCD):c.699+1G>T rs1554137130
NM_000337.6(SGCD):c.69C>A (p.Tyr23Ter) rs397517923

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