ClinVar Miner

List of variants in gene YRDC reported as pathogenic for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_024640.4(YRDC):c.662T>C (p.Ile221Thr) rs2148390396
NM_024640.4(YRDC):c.721_724del (p.Val241fs) rs747256043
NM_024640.4(YRDC):c.791TCC[1] (p.Leu265del) rs1646718218

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