ClinVar Miner

List of variants reported as benign for Dyskeratosis congenita, autosomal recessive, 3

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Total variants: 11
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HGVS dbSNP
NM_001143992.2(WRAP53):c.1308T>C (p.Ala436=) rs34016213
NM_001143992.2(WRAP53):c.1359C>T (p.Pro453=) rs35082161
NM_001143992.2(WRAP53):c.1565C>G (p.Ala522Gly) rs7640
NM_001143992.2(WRAP53):c.202C>G (p.Arg68Gly) rs2287499
NM_001143992.2(WRAP53):c.31C>T (p.Pro11Ser) rs17880282
NM_001143992.2(WRAP53):c.407C>G (p.Pro136Arg) rs34067256
NM_001143992.2(WRAP53):c.450C>T (p.Phe150=) rs2287498
NM_001143992.2(WRAP53):c.807C>T (p.Arg269=) rs35307405
NM_001143992.2(WRAP53):c.936C>T (p.Cys312=) rs73248508
NM_018081.2(WRAP53):c.-206G>A rs17551150
NM_018081.2(WRAP53):c.-245G>C rs17883670

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