ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive disease by UAEU Genomics Laboratory, United Arab Emirates University

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp) rs143179070 0.00358
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00059
NM_032119.4(ADGRV1):c.6293T>C (p.Leu2098Pro)

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