ClinVar Miner

List of variants studied for Dyskeratosis congenita, autosomal recessive 3 by Illumina Laboratory Services, Illumina

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_001143992.2(WRAP53):c.202C>G (p.Arg68Gly) rs2287499 0.32078
NM_001143992.2(WRAP53):c.450C>T (p.Phe150=) rs2287498 0.13667
NM_001143992.2(WRAP53):c.1308T>C (p.Ala436=) rs34016213 0.04793
NM_001143992.2(WRAP53):c.31C>T (p.Pro11Ser) rs17880282 0.02475
NM_018081.2(WRAP53):c.-245G>C rs17883670 0.01940
NM_001143992.2(WRAP53):c.1359C>T (p.Pro453=) rs35082161 0.00953
NM_001143992.2(WRAP53):c.936C>T (p.Cys312=) rs73248508 0.00565
NM_001143992.2(WRAP53):c.807C>T (p.Arg269=) rs35307405 0.00385
NM_001143992.2(WRAP53):c.823-10C>T rs117192546 0.00352
NM_018081.2(WRAP53):c.-206G>A rs17551150 0.00197
NM_001143992.2(WRAP53):c.1566G>A (p.Ala522=) rs148329158 0.00162
NM_001143992.2(WRAP53):c.407C>G (p.Pro136Arg) rs34067256 0.00138
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.431+15C>T rs17880740 0.00027
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.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.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.1403+6C>T rs886053518
NM_001143992.2(WRAP53):c.1565C>G (p.Ala522Gly) rs7640
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.834G>A (p.Thr278=) rs372166304

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