ClinVar Miner

List of variants in gene DHCR7 reported as pathogenic by Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001360.3(DHCR7):c.1A>G (p.Met1Val) rs104886033 0.00004
NM_001360.3(DHCR7):c.1A>C (p.Met1Leu) rs104886033

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