ClinVar Miner

List of variants in gene RNF216 studied for cerebellar ataxia-hypogonadism syndrome

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_207111.4(RNF216):c.149C>G (p.Ala50Gly) rs115737075 0.00870
NM_207111.4(RNF216):c.1717C>T (p.Arg573Cys) rs147871230 0.00028
NM_207111.4(RNF216):c.108C>G (p.Asp36Glu) rs780693172 0.00001
NM_207111.4(RNF216):c.1849A>G (p.Met617Val) rs200769983 0.00001
GRCh37/hg19 7p22.1(chr7:5692044-5692141)
NM_207111.4(RNF216):c.1172G>C (p.Arg391Thr) rs1472835365
NM_207111.4(RNF216):c.1367G>A (p.Gly456Glu) rs794728000
NM_207111.4(RNF216):c.1616A>G (p.Tyr539Cys) rs148642312
NM_207111.4(RNF216):c.1644G>C (p.Glu548Asp)
NM_207111.4(RNF216):c.1791T>A (p.Cys597Ter) rs387907369
NM_207111.4(RNF216):c.1904C>T (p.Pro635Leu)
NM_207111.4(RNF216):c.1del (p.Met1fs)
NM_207111.4(RNF216):c.202-1G>C rs1562451985
NM_207111.4(RNF216):c.2044A>C (p.Asn682His) rs2128629393
NM_207111.4(RNF216):c.2061+3A>G rs2128629356
NM_207111.4(RNF216):c.2149C>T (p.Arg717Cys) rs1335215379
NM_207111.4(RNF216):c.2251C>T (p.Arg751Cys) rs387907368
NM_207111.4(RNF216):c.2374G>A (p.Asp792Asn) rs1012568298
NM_207111.4(RNF216):c.2375A>C (p.Asp792Ala) rs2128567359
NM_207111.4(RNF216):c.2663T>A (p.Val888Glu) rs1449103875
NM_207111.4(RNF216):c.2686G>T (p.Val896Phe) rs141327139
NM_207111.4(RNF216):c.54C>G (p.Cys18Trp)
NM_207111.4(RNF216):c.615_616del (p.Glu205fs) rs387907370
NM_207111.4(RNF216):c.83G>A (p.Arg28Gln)
NM_207111.4(RNF216):c.904C>T (p.Gln302Ter) rs373785974
NM_207111.4(RNF216):c.986G>A (p.Trp329Ter)
NM_207111.4(RNF216):c.991C>T (p.Gln331Ter)

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