ClinVar Miner

List of variants in gene FRRS1L reported as pathogenic by Kruer lab, Phoenix Children's Hospital

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_014334.4(FRRS1L):c.283dup (p.Ile95fs) rs878853283
NM_014334.4(FRRS1L):c.584_586del (p.Gly195del) rs878853282
NM_014334.4(FRRS1L):c.692G>A (p.Trp231Ter) rs878853281
NM_014334.4(FRRS1L):c.808C>T (p.Gln270Ter) rs878853280

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