ClinVar Miner

List of variants studied for Revesz syndrome; Dyskeratosis congenita, autosomal dominant 1; Dyskeratosis congenita, autosomal dominant 3

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001099274.3(TINF2):c.1236C>T (p.Asn412=) rs117234138 0.00329
NM_001099274.3(TINF2):c.359A>G (p.Gln120Arg) rs189265179 0.00163
NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr) rs142777869 0.00034
NM_001099274.3(TINF2):c.403C>T (p.Leu135Phe) rs199740488 0.00012
NM_001099274.3(TINF2):c.936C>A (p.Tyr312Ter) rs201677741 0.00006
NM_001099274.3(TINF2):c.802G>C (p.Val268Leu) rs369926102 0.00001
NM_001099274.3(TINF2):c.1285C>A (p.Leu429Ile) rs780647966
NM_001099274.3(TINF2):c.845G>A (p.Arg282His) rs121918544

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