ClinVar Miner

List of variants in gene DNASE1L3 studied for immune system disorder

Included ClinVar conditions (908):
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Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_004944.4(DNASE1L3):c.705-3C>T rs186823038 0.00187
NM_004944.4(DNASE1L3):c.543G>A (p.Ala181=) rs61730077 0.00175
NM_004944.4(DNASE1L3):c.501G>A (p.Glu167=) rs149185668 0.00114
NM_004944.4(DNASE1L3):c.777A>G (p.Lys259=) rs138248740 0.00024
NM_004944.4(DNASE1L3):c.854G>A (p.Arg285Lys) rs151161986 0.00021
NM_004944.4(DNASE1L3):c.274C>T (p.Arg92Trp) rs141477807 0.00017
NM_004944.4(DNASE1L3):c.444C>T (p.Asp148=) rs370862010 0.00017
NM_004944.4(DNASE1L3):c.152G>A (p.Arg51His) rs372315713 0.00013
NM_004944.4(DNASE1L3):c.437T>C (p.Val146Ala) rs201928908 0.00011
NM_004944.4(DNASE1L3):c.577G>A (p.Gly193Ser) rs200457209 0.00010
NM_004944.4(DNASE1L3):c.671C>T (p.Thr224Met) rs769575190 0.00010
NM_004944.4(DNASE1L3):c.803C>G (p.Ala268Gly) rs113005222 0.00009
NM_004944.4(DNASE1L3):c.433+15G>A rs376623875 0.00008
NM_004944.4(DNASE1L3):c.231-9G>C rs188393900 0.00007
NM_004944.4(DNASE1L3):c.97G>A (p.Glu33Lys) rs201136542 0.00007
NM_004944.4(DNASE1L3):c.1A>T (p.Met1Leu) rs142482733 0.00006
NM_004944.4(DNASE1L3):c.801+17G>C rs373633551 0.00006
NM_004944.4(DNASE1L3):c.151C>T (p.Arg51Cys) rs374713985 0.00005
NM_004944.4(DNASE1L3):c.360T>C (p.His120=) rs146555960 0.00004
NM_004944.4(DNASE1L3):c.730G>A (p.Val244Ile) rs778387758 0.00004
NM_004944.4(DNASE1L3):c.211C>T (p.Leu71=) rs201845352 0.00003
NM_004944.4(DNASE1L3):c.601G>A (p.Ala201Thr) rs777430061 0.00003
NM_004944.4(DNASE1L3):c.709G>C (p.Val237Leu) rs747698984 0.00003
NM_004944.4(DNASE1L3):c.275G>A (p.Arg92Gln) rs561644406 0.00002
NM_004944.4(DNASE1L3):c.448G>A (p.Val150Met) rs146805633 0.00002
NM_004944.4(DNASE1L3):c.115A>G (p.Lys39Glu) rs1456163008 0.00001
NM_004944.4(DNASE1L3):c.304T>C (p.Tyr102His) rs1397140992 0.00001
NM_004944.4(DNASE1L3):c.320+17C>A rs376951611 0.00001
NM_004944.4(DNASE1L3):c.359A>G (p.His120Arg) rs1282131721 0.00001
NM_004944.4(DNASE1L3):c.112G>A (p.Asp38Asn) rs148208826
NM_004944.4(DNASE1L3):c.112G>C (p.Asp38His) rs148208826
NM_004944.4(DNASE1L3):c.179T>G (p.Ile60Ser) rs2097405348
NM_004944.4(DNASE1L3):c.290_291del (p.Thr97fs) rs751206379
NM_004944.4(DNASE1L3):c.307G>C (p.Ala103Pro)
NM_004944.4(DNASE1L3):c.384T>A (p.Asp128Glu) rs374838291
NM_004944.4(DNASE1L3):c.424C>A (p.Pro142Thr) rs563166164
NM_004944.4(DNASE1L3):c.519G>C (p.Thr173=) rs138720416
NM_004944.4(DNASE1L3):c.537G>A (p.Trp179Ter) rs2107373870
NM_004944.4(DNASE1L3):c.563G>C (p.Gly188Ala) rs1313460433
NM_004944.4(DNASE1L3):c.572A>G (p.Asn191Ser)
NM_004944.4(DNASE1L3):c.643del (p.Trp215fs) rs1575496354
NM_004944.4(DNASE1L3):c.729C>G (p.Ile243Met) rs76440799
NM_004944.4(DNASE1L3):c.7C>G (p.Arg3Gly) rs202183427

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