ClinVar Miner

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

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Gene type:
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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001199799.2(ILDR1):c.461C>T (p.Ser154Leu) rs115649165 0.00057
NM_001199799.2(ILDR1):c.1297C>T (p.Arg433Trp) rs140567004 0.00050
NM_001199799.2(ILDR1):c.772C>T (p.Gln258Ter) rs142746163 0.00019
NM_001199799.2(ILDR1):c.1385G>A (p.Arg462Gln) rs200630651 0.00013
NM_001199799.2(ILDR1):c.794C>T (p.Ser265Phe) rs146027039 0.00010
NM_001199799.2(ILDR1):c.1357C>T (p.Arg453Trp) rs376986803 0.00006
NM_001199799.2(ILDR1):c.929T>G (p.Phe310Cys) rs199882599 0.00006
NM_001199799.2(ILDR1):c.352C>T (p.Arg118Trp) rs774128939 0.00004
NM_001199799.2(ILDR1):c.1360G>A (p.Glu454Lys) rs727503097 0.00003
NM_001199799.2(ILDR1):c.1537C>T (p.Arg513Cys) rs767668911 0.00003
NM_001199799.2(ILDR1):c.451G>A (p.Gly151Arg) rs727503098 0.00003
NM_001199799.2(ILDR1):c.80C>T (p.Thr27Met) rs145984650 0.00003
NM_001199799.2(ILDR1):c.1291C>T (p.Arg431Cys) rs376510686 0.00001
NM_001199799.2(ILDR1):c.1388G>A (p.Arg463His) rs199571441 0.00001
NM_001199799.2(ILDR1):c.1433C>T (p.Ser478Phe) rs727503096 0.00001
NM_001199799.2(ILDR1):c.73C>G (p.Leu25Val) rs727505226 0.00001
NM_001199799.2(ILDR1):c.*11C>T rs775202902
NM_001199799.2(ILDR1):c.-4C>T rs761442523
NM_001199799.2(ILDR1):c.1137G>C (p.Glu379Asp) rs1553743343
NM_001199799.2(ILDR1):c.1158G>C (p.Lys386Asn) rs1553743331
NM_001199799.2(ILDR1):c.1245G>T (p.Trp415Cys) rs140777020
NM_001199799.2(ILDR1):c.1357del (p.Arg453fs) rs759967990
NM_001199799.2(ILDR1):c.1526C>T (p.Pro509Leu) rs374884043
NM_001199799.2(ILDR1):c.1582A>G (p.Ser528Gly) rs727503095
NM_001199799.2(ILDR1):c.230-9del rs876657832
NM_001199799.2(ILDR1):c.380-10T>A rs748442864
NM_001199799.2(ILDR1):c.486G>T (p.Lys162Asn) rs142554264
NM_001199799.2(ILDR1):c.950T>G (p.Leu317Arg) rs1553743398

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