ClinVar Miner

List of variants in gene WRN studied for hematologic disorder

Included ClinVar conditions (812):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_000553.6(WRN):c.513C>T (p.Cys171=) rs1800389 0.66802
NM_000553.6(WRN):c.3222G>T (p.Leu1074Phe) rs1801195 0.46398
NM_000553.6(WRN):c.3138+7G>A rs2737335 0.46283
NM_000553.6(WRN):c.2361G>T (p.Leu787=) rs1800392 0.44630
NM_000553.6(WRN):c.3138+6C>T rs3024239 0.39769
NM_000553.6(WRN):c.4083C>T (p.Ser1361=) rs1801196 0.28751
NM_000553.6(WRN):c.4099T>C (p.Cys1367Arg) rs1346044 0.22492
NM_000553.6(WRN):c.1577-3C>A rs3087409 0.07869
NM_000553.6(WRN):c.340G>A (p.Val114Ile) rs2230009 0.07797
NM_000553.6(WRN):c.1161G>A (p.Met387Ile) rs1800391 0.06046
NM_000553.6(WRN):c.355+20A>T rs4987239 0.04393
NM_000553.6(WRN):c.1155G>A (p.Glu385=) rs2230010 0.01974
NM_000553.6(WRN):c.3236C>T (p.Ser1079Leu) rs3087414 0.01577
NM_000553.6(WRN):c.1725T>C (p.Tyr575=) rs13438802 0.00516
NM_000553.6(WRN):c.1788T>C (p.Ser596=) rs13438803 0.00512
NM_000553.6(WRN):c.4015G>A (p.Val1339Ile) rs11574395 0.00418
NM_000553.6(WRN):c.1577-17T>G rs145080962 0.00363
NM_000553.6(WRN):c.970A>G (p.Thr324Ala) rs1800390 0.00245
NM_000553.6(WRN):c.2950T>A (p.Leu984Ile) rs146443310 0.00134
NM_000553.6(WRN):c.144A>G (p.Glu48=) rs145959045 0.00133
NM_000553.6(WRN):c.2937T>G (p.Ile979Met) rs147802438 0.00131
NM_000553.6(WRN):c.107G>A (p.Arg36Gln) rs34084741 0.00091
NM_000553.6(WRN):c.3237G>A (p.Ser1079=) rs11574345 0.00069
NM_000553.6(WRN):c.1882C>G (p.Leu628Val) rs77969734 0.00050
NM_000553.6(WRN):c.3101A>T (p.Tyr1034Phe) rs200370409 0.00024
NM_000553.6(WRN):c.3132G>A (p.Thr1044=) rs775952540 0.00006
NM_000553.6(WRN):c.75A>G (p.Arg25=) rs150524008 0.00006
NM_000553.6(WRN):c.1378G>A (p.Asp460Asn) rs556958354 0.00002
NM_000553.6(WRN):c.3234-130T>C rs2725364

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