List of variants in gene RNF216 reported as uncertain significance for cerebellar ataxia-hypogonadism syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_207111.4(RNF216):c.108C>G (p.Asp36Glu)	rs780693172	0.00001
NM_207111.4(RNF216):c.1172G>C (p.Arg391Thr)	rs1472835365
NM_207111.4(RNF216):c.1616A>G (p.Tyr539Cys)	rs148642312
NM_207111.4(RNF216):c.1644G>C (p.Glu548Asp)
NM_207111.4(RNF216):c.1904C>T (p.Pro635Leu)
NM_207111.4(RNF216):c.1del (p.Met1fs)
NM_207111.4(RNF216):c.2044A>C (p.Asn682His)	rs2128629393
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.83G>A (p.Arg28Gln)

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