ClinVar Miner

List of variants in gene SERAC1 reported as likely pathogenic by GeneDx

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_032861.4(SERAC1):c.1763del (p.Val588fs) rs770661156 0.00004
NM_032861.4(SERAC1):c.1493G>C (p.Ser498Thr) rs201941476 0.00003
NM_032861.4(SERAC1):c.1501+2T>C rs1554261245
NM_032861.4(SERAC1):c.1501+3_1501+6del rs780783562
NM_032861.4(SERAC1):c.1592G>A (p.Ser531Asn) rs1057524000
NM_032861.4(SERAC1):c.1822_1828+10delinsACCAACAGG rs1554260851
NM_032861.4(SERAC1):c.21C>G (p.Cys7Trp) rs139301835

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