ClinVar Miner

List of variants in gene combination CASD1, SGCE reported as likely benign by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_003919.3(SGCE):c.391-79G>T rs545885131 0.00525
NM_003919.3(SGCE):c.1206C>T (p.His402=)
NM_003919.3(SGCE):c.436T>C (p.Leu146=) rs752074255
NM_003919.3(SGCE):c.463+695del
NM_003919.3(SGCE):c.463+698_463+699del rs780867069

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