ClinVar Miner

List of variants reported for RNH1-related disorder by Undiagnosed Diseases Network, NIH

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_203387.3(RNH1):c.1117C>T (p.Arg373Trp)	rs759267447	0.00013
NM_203387.3(RNH1):c.682_685delinsCTGGGCCTTGGGCA (p.Ser228fs)	rs1849424627

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