ClinVar Miner

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

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_001143992.2(WRAP53):c.1521C>T (p.His507=) rs146651237 0.00096
NM_001143992.2(WRAP53):c.1537C>G (p.Arg513Gly) rs144549494 0.00062
NM_001143992.2(WRAP53):c.720A>G (p.Pro240=) rs199901527 0.00035
NM_001143992.2(WRAP53):c.1269-13C>T rs371953585 0.00031
NM_001143992.2(WRAP53):c.187G>A (p.Val63Met) rs145760222 0.00021
NM_001143992.2(WRAP53):c.1035C>T (p.Tyr345=) rs138784430 0.00011
NM_018081.2(WRAP53):c.-255G>A rs564330662 0.00011
NM_001143992.2(WRAP53):c.-62C>T rs748265946 0.00009
NM_001143992.2(WRAP53):c.395C>A (p.Thr132Asn) rs201340741 0.00008
NM_001143992.2(WRAP53):c.495C>T (p.Ser165=) rs147817526 0.00008
NM_001143992.2(WRAP53):c.956-6del rs773916846 0.00008
NM_001143992.2(WRAP53):c.1522G>A (p.Val508Ile) rs768089496 0.00006
NM_001143992.2(WRAP53):c.330C>T (p.Asn110=) rs150180394 0.00004
NM_001143992.2(WRAP53):c.976G>A (p.Gly326Ser) rs758704444 0.00004
NM_001143992.2(WRAP53):c.1268C>T (p.Pro423Leu) rs762178428 0.00003
NM_001143992.2(WRAP53):c.643-4A>G rs770005848 0.00002
NM_001143992.2(WRAP53):c.956-14C>T rs1484627654 0.00002
NM_001143992.2(WRAP53):c.106G>A (p.Ala36Thr) rs1162035408 0.00001
NM_001143992.2(WRAP53):c.1441G>A (p.Gly481Ser) rs763828661 0.00001
NM_001143992.2(WRAP53):c.1448G>A (p.Arg483His) rs199522817 0.00001
NM_001143992.2(WRAP53):c.432-15C>G rs771063284 0.00001
NM_001143992.2(WRAP53):c.822+10G>A rs372606750 0.00001
NM_001143992.2(WRAP53):c.860C>T (p.Pro287Leu) rs375280065 0.00001
NM_001143992.2(WRAP53):c.-1-5T>C rs2074054532
NM_001143992.2(WRAP53):c.-1-5T>G rs2074054532
NM_001143992.2(WRAP53):c.-2+2T>C rs886053517
NM_001143992.2(WRAP53):c.-23C>G rs2074051591
NM_001143992.2(WRAP53):c.-52C>T rs79199718
NM_001143992.2(WRAP53):c.1049del (p.Gly350fs) rs759174078
NM_001143992.2(WRAP53):c.1168G>A (p.Ala390Thr) rs2151097173
NM_001143992.2(WRAP53):c.1403+6C>T rs886053518
NM_001143992.2(WRAP53):c.1557_1559del (p.Cys519_Gly520delinsTrp) rs2074302817
NM_001143992.2(WRAP53):c.1561G>T (p.Gly521Trp) rs967111874
NM_001143992.2(WRAP53):c.1564del (p.Ala522fs) rs755116516
NM_001143992.2(WRAP53):c.1564dup (p.Ala522fs) rs755116516
NM_001143992.2(WRAP53):c.1627G>A (p.Gly543Ser) rs2074304991
NM_001143992.2(WRAP53):c.18_19del (p.Gln7fs) rs764437508
NM_001143992.2(WRAP53):c.550A>C (p.Ile184Leu) rs776832907
NM_001143992.2(WRAP53):c.834G>A (p.Thr278=) rs372166304

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