ClinVar Miner

List of variants reported as benign for thrombophilia due to protein C deficiency, autosomal recessive by Genome-Nilou Lab

Included ClinVar conditions (2):

Thrombophilia due to protein C deficiency, autosomal recessive
Thrombophilia due to protein C deficiency, autosomal recessive; Thrombophilia due to protein C deficiency, autosomal dominant

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000312.4(PROC):c.535+44A>G	rs1878844	0.99385
NM_000312.4(PROC):c.423G>T (p.Ser141=)	rs5936	0.69846
NM_000312.4(PROC):c.768T>C (p.Asp256=)	rs5937	0.27234

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