ClinVar Miner

List of variants in gene SERPINC1 reported as pathogenic by Servicio de Hematología y Oncología médica, Universidad de Murcia

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Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
Multiple alleles
NC_000001.11:g.173905922_173905923ins[NC_000006.11:56893618_56896059]
NC_000001.11:g.173908412_173919816dup
NC_000001.11:g.173914640_173922032del
NM_000488.4(SERPINC1):c.1154-324_1218+475dup rs2102778169
NM_000488.4(SERPINC1):c.1154-40_1218+127dup rs2102778641
NM_000488.4(SERPINC1):c.1154-898_1218+410del
NM_000488.4(SERPINC1):c.408+948_763-386del
NM_000488.4(SERPINC1):c.41+297_55del
NM_000488.4(SERPINC1):c.42-486_1154-846del
NM_000488.4(SERPINC1):c.763-379_1084del rs2102782435
NM_000488.4(SERPINC1):c.84_409-536del

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