ClinVar Miner

List of variants in gene combination LOC110806263, TERT reported as uncertain significance for Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2

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Total variants: 21
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NM_198253.2(TERT):c.-57A>C rs878855297
NM_198253.2(TERT):c.10G>C (p.Ala4Pro)
NM_198253.2(TERT):c.127G>A (p.Asp43Asn)
NM_198253.2(TERT):c.136G>A (p.Ala46Thr)
NM_198253.2(TERT):c.144C>T (p.Arg48=) rs746281705
NM_198253.2(TERT):c.146C>T (p.Ala49Val) rs1060503013
NM_198253.2(TERT):c.150G>A (p.Leu50=) rs886044153
NM_198253.2(TERT):c.153G>A (p.Val51=) rs1554043143
NM_198253.2(TERT):c.159G>C (p.Gln53His) rs1060503006
NM_198253.2(TERT):c.180G>C (p.Trp60Cys) rs1554043139
NM_198253.2(TERT):c.193C>A (p.Pro65Thr) rs544215765
NM_198253.2(TERT):c.193C>G (p.Pro65Ala) rs544215765
NM_198253.2(TERT):c.194C>T (p.Pro65Leu) rs1561215067
NM_198253.2(TERT):c.202G>T (p.Ala68Ser)
NM_198253.2(TERT):c.203C>T (p.Ala68Val)
NM_198253.2(TERT):c.22C>G (p.Arg8Gly)
NM_198253.2(TERT):c.27C>A (p.Ala9=) rs1033959815
NM_198253.2(TERT):c.76A>G (p.Thr26Ala)
NM_198253.2(TERT):c.82G>C (p.Val28Leu) rs1060503000
NM_198253.2(TERT):c.83T>G (p.Val28Gly) rs1561215157

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