ClinVar Miner

List of variants in gene CCDC40 reported by Department of Pathology and Laboratory Medicine, Sinai Health System

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Gene type:
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_017950.4(CCDC40):c.2017G>A (p.Asp673Asn) rs115850223 0.00301
NM_017950.4(CCDC40):c.1562+2018C>T rs562415439 0.00092
NM_017950.4(CCDC40):c.940-7G>A rs727504972 0.00004
NM_017950.4(CCDC40):c.2497A>G (p.Met833Val) rs376911979 0.00001
NM_017950.4(CCDC40):c.2832+385_2832+470del rs2143762791

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