ClinVar Miner

List of variants in gene CDHR1 reported as likely benign by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_033100.4(CDHR1):c.1792G>A (p.Glu598Lys) rs114754869 0.00173
NM_033100.4(CDHR1):c.1071C>T (p.Ser357=) rs146588811 0.00167
NM_033100.4(CDHR1):c.526-7C>G rs190906755 0.00166
NM_033100.4(CDHR1):c.1461G>A (p.Gly487=) rs141787212 0.00145
NM_033100.4(CDHR1):c.784-3G>A rs201384219 0.00009
NM_033100.4(CDHR1):c.1431C>T (p.Tyr477=) rs147972961 0.00008
NM_033100.4(CDHR1):c.1344C>T (p.Thr448=) rs542195636

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