ClinVar Miner

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

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Total variants: 31
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HGVS dbSNP
NM_001143992.2(WRAP53):c.-1-5T>C
NM_001143992.2(WRAP53):c.-1-5T>G
NM_001143992.2(WRAP53):c.-2+2T>C rs886053517
NM_001143992.2(WRAP53):c.-23C>G
NM_001143992.2(WRAP53):c.-52C>T rs79199718
NM_001143992.2(WRAP53):c.-62C>T
NM_001143992.2(WRAP53):c.1035C>T (p.Tyr345=) rs138784430
NM_001143992.2(WRAP53):c.106G>A (p.Ala36Thr)
NM_001143992.2(WRAP53):c.1268C>T (p.Pro423Leu)
NM_001143992.2(WRAP53):c.1269-13C>T rs371953585
NM_001143992.2(WRAP53):c.1403+6C>T rs886053518
NM_001143992.2(WRAP53):c.1448G>A (p.Arg483His) rs199522817
NM_001143992.2(WRAP53):c.1521C>T (p.His507=) rs146651237
NM_001143992.2(WRAP53):c.1537C>G (p.Arg513Gly)
NM_001143992.2(WRAP53):c.1564del (p.Ala522fs) rs755116516
NM_001143992.2(WRAP53):c.1627G>A (p.Gly543Ser)
NM_001143992.2(WRAP53):c.187G>A (p.Val63Met) rs145760222
NM_001143992.2(WRAP53):c.18_19del (p.Gln7fs) rs764437508
NM_001143992.2(WRAP53):c.330C>T (p.Asn110=)
NM_001143992.2(WRAP53):c.395C>A (p.Thr132Asn) rs201340741
NM_001143992.2(WRAP53):c.432-15C>G
NM_001143992.2(WRAP53):c.495C>T (p.Ser165=) rs147817526
NM_001143992.2(WRAP53):c.550A>C (p.Ile184Leu) rs776832907
NM_001143992.2(WRAP53):c.643-4A>G
NM_001143992.2(WRAP53):c.720A>G (p.Pro240=) rs199901527
NM_001143992.2(WRAP53):c.822+10G>A rs372606750
NM_001143992.2(WRAP53):c.834G>A (p.Thr278=) rs372166304
NM_001143992.2(WRAP53):c.860C>T (p.Pro287Leu)
NM_001143992.2(WRAP53):c.956-14C>T
NM_001143992.2(WRAP53):c.976G>A (p.Gly326Ser) rs758704444
NM_018081.2(WRAP53):c.-255G>A rs564330662

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