ClinVar Miner

List of variants reported as uncertain significance for Dyskeratosis congenita, autosomal recessive 5 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001283009.2(RTEL1):c.380G>A (p.Arg127Gln) rs769163032 0.00004
NM_001283009.2(RTEL1):c.1675T>A (p.Phe559Ile) rs747497376
NM_001283009.2(RTEL1):c.2210A>G (p.Asn737Ser)
NM_001283009.2(RTEL1):c.2348TCT[1] (p.Phe784del) rs771771098
NM_001283009.2(RTEL1):c.260C>T (p.Ser87Leu)
NM_001283009.2(RTEL1):c.2767A>G (p.Lys923Glu)
NM_001283009.2(RTEL1):c.3550T>G (p.Phe1184Val)
NM_001283009.2(RTEL1):c.394C>T (p.Arg132Trp) rs769533935
NM_198253.3(TERT):c.2300C>G (p.Thr767Arg)

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