ClinVar Miner

List of variants in gene ILDR1 reported as likely benign by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Gene type:
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001199799.2(ILDR1):c.1305C>A (p.Ser435Arg) rs35597690 0.00120
NM_001199799.2(ILDR1):c.225A>G (p.Ser75=) rs146402126 0.00098
NM_001199799.2(ILDR1):c.1159T>C (p.Ser387Pro) rs150250182 0.00028
NM_001199799.2(ILDR1):c.921A>G (p.Lys307=) rs370886914 0.00017
NM_001199799.2(ILDR1):c.1378G>A (p.Gly460Arg) rs559855953 0.00012
NM_001199799.2(ILDR1):c.792G>A (p.Pro264=) rs186672543 0.00009
NM_001199799.2(ILDR1):c.1324C>T (p.Arg442Cys) rs141559449 0.00007
NM_001199799.2(ILDR1):c.660C>T (p.His220=) rs759965447 0.00006
NM_001199799.2(ILDR1):c.801C>G (p.Leu267=) rs149548365 0.00006
NM_001199799.2(ILDR1):c.1160C>G (p.Ser387Cys) rs746732835 0.00005
NM_001199799.2(ILDR1):c.1461G>A (p.Arg487=) rs189004426 0.00005
NM_001199799.2(ILDR1):c.1194G>A (p.Ser398=) rs139810461 0.00002
NM_001199799.2(ILDR1):c.483A>T (p.Val161=) rs369002219 0.00002
NM_001199799.2(ILDR1):c.1560C>A (p.Gly520=) rs369318229 0.00001
NM_001199799.2(ILDR1):c.1600-13T>C rs567262350 0.00001
NM_001199799.2(ILDR1):c.25C>T (p.Pro9Ser) rs1217446345 0.00001
NM_001199799.2(ILDR1):c.1425C>A (p.Gly475=) rs1183661317
NM_001199799.2(ILDR1):c.255C>T (p.Gly85=) rs1553744679
NM_001199799.2(ILDR1):c.561G>A (p.Val187=) rs775815087
NM_001199799.2(ILDR1):c.661C>T (p.Arg221Cys) rs182963279
NM_001199799.2(ILDR1):c.762C>T (p.His254=) rs397516638

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