ClinVar Miner

List of variants in gene combination CASD1, SGCE reported as benign by Athena Diagnostics Inc

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Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_003919.3(SGCE):c.391-43A>C rs2272091 0.10996
NM_003919.3(SGCE):c.391-3T>C rs17166384 0.08209
NM_003919.3(SGCE):c.1253+814G>A rs183951730 0.00875
NM_003919.3(SGCE):c.391-79G>T rs545885131 0.00525
NM_003919.3(SGCE):c.369G>C (p.Val123=) rs140913016 0.00393
NM_003919.3(SGCE):c.769A>C (p.Thr257Pro) rs116105264 0.00283
NM_003919.3(SGCE):c.606A>G (p.Thr202=) rs148979783 0.00105
NM_003919.3(SGCE):c.1253+811A>C rs10247562
NM_003919.3(SGCE):c.1253+811_1253+812delinsCA rs1562798687
NM_003919.3(SGCE):c.1254-9_1254-7del rs201696689

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