ClinVar Miner

List of variants in gene DSP reported as likely benign for Ectodermal dysplasia skin fragility syndrome

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Gene type:
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Total variants: 73
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HGVS dbSNP
NM_004415.3(DSP):c.-281C>T rs547069600
NM_004415.4(DSP):c.*276_*278del rs144440643
NM_004415.4(DSP):c.*39T>C rs145079869
NM_004415.4(DSP):c.*47T>C rs376397291
NM_004415.4(DSP):c.*62A>T rs182788116
NM_004415.4(DSP):c.*9T>A rs11558732
NM_004415.4(DSP):c.105G>A (p.Gly35=) rs77445784
NM_004415.4(DSP):c.1149A>G (p.Glu383=) rs572980966
NM_004415.4(DSP):c.1154C>T (p.Ala385Val) rs146737031
NM_004415.4(DSP):c.1206G>A (p.Lys402=) rs150422458
NM_004415.4(DSP):c.12C>G (p.Asn4Lys) rs368802003
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) rs28763961
NM_004415.4(DSP):c.1488G>A (p.Thr496=) rs35820473
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) rs148147581
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser) rs34239595
NM_004415.4(DSP):c.1903+7T>C rs28763962
NM_004415.4(DSP):c.2247A>G (p.Leu749=) rs28763963
NM_004415.4(DSP):c.2346C>T (p.Asp782=) rs139071827
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys) rs142429411
NM_004415.4(DSP):c.2673T>C (p.Tyr891=) rs146407262
NM_004415.4(DSP):c.269A>G (p.Gln90Arg) rs188516326
NM_004415.4(DSP):c.2723G>A (p.Arg908His) rs142494121
NM_004415.4(DSP):c.273+10C>T rs56148603
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp) rs145933612
NM_004415.4(DSP):c.2774G>A (p.Arg925Gln) rs139799237
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569
NM_004415.4(DSP):c.3507C>T (p.Tyr1169=) rs148894066
NM_004415.4(DSP):c.3510G>A (p.Glu1170=) rs28763964
NM_004415.4(DSP):c.3650C>T (p.Thr1217Met) rs535202724
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln) rs138907450
NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln) rs184154918
NM_004415.4(DSP):c.3963G>A (p.Gln1321=) rs61731476
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=) rs148478829
NM_004415.4(DSP):c.4071G>C (p.Glu1357Asp) rs569786610
NM_004415.4(DSP):c.4141A>T (p.Thr1381Ser) rs77758574
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965
NM_004415.4(DSP):c.4383G>A (p.Glu1461=) rs140029036
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser) rs113902911
NM_004415.4(DSP):c.4588G>T (p.Val1530Phe) rs141227126
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967
NM_004415.4(DSP):c.4741A>G (p.Lys1581Glu) rs186842903
NM_004415.4(DSP):c.4752G>A (p.Ala1584=) rs201213622
NM_004415.4(DSP):c.4773G>A (p.Arg1591=) rs28763968
NM_004415.4(DSP):c.4886G>T (p.Ser1629Ile) rs200243976
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys) rs147415451
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) rs142885240
NM_004415.4(DSP):c.5304G>C (p.Gly1768=) rs530612211
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302
NM_004415.4(DSP):c.5513G>A (p.Arg1838His) rs377715841
NM_004415.4(DSP):c.5593A>T (p.Asn1865Tyr) rs562015789
NM_004415.4(DSP):c.6038G>A (p.Arg2013Gln) rs557263443
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885
NM_004415.4(DSP):c.6390T>C (p.Ala2130=) rs28763969
NM_004415.4(DSP):c.6678T>A (p.Gly2226=) rs149070106
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly) rs147000526
NM_004415.4(DSP):c.7278T>C (p.Tyr2426=) rs78843072
NM_004415.4(DSP):c.7548G>A (p.Arg2516=) rs756527780
NM_004415.4(DSP):c.7557G>A (p.Leu2519=) rs397516957
NM_004415.4(DSP):c.7734C>T (p.Ser2578=) rs28763970
NM_004415.4(DSP):c.7883T>C (p.Leu2628Pro) rs147484870
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln) rs116888866
NM_004415.4(DSP):c.7995G>A (p.Thr2665=) rs35379048
NM_004415.4(DSP):c.8175C>A (p.Arg2725=) rs11558731
NM_004415.4(DSP):c.8191T>C (p.Tyr2731His) rs201397978
NM_004415.4(DSP):c.8300C>A (p.Thr2767Asn) rs34884895
NM_004415.4(DSP):c.8301C>G (p.Thr2767=) rs145362059
NM_004415.4(DSP):c.8455A>C (p.Met2819Leu) rs138329459
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala) rs142717240
NM_004415.4(DSP):c.8481C>T (p.Ser2827=) rs151029175
NM_004415.4(DSP):c.8605A>G (p.Ile2869Val) rs28763971
NM_004415.4(DSP):c.889G>A (p.Asp297Asn) rs201930322
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693
NM_004415.4(DSP):c.943C>T (p.Arg315Cys) rs200476515

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