ClinVar Miner

List of variants in gene RHBDF2 reported as benign by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001005498.4(RHBDF2):c.536C>T (p.Pro179Leu) rs3744045 0.79851
NM_001005498.4(RHBDF2):c.151-39G>T rs3809694 0.43017
NM_001005498.4(RHBDF2):c.-14G>A rs12943385 0.12261
NM_001005498.4(RHBDF2):c.28A>C (p.Ser10Arg) rs80133178 0.00355

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