ClinVar Miner

List of variants studied for Hypophosphatemic rickets, autosomal recessive, 1 by Illumina Laboratory Services, Illumina

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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_004407.4(DMP1):c.*607A>G rs2627725 0.61047
NM_004407.4(DMP1):c.205A>T (p.Ser69Cys) rs10019009 0.29735
NM_004407.4(DMP1):c.1230G>A (p.Glu410=) rs2615497 0.28028
NM_004407.4(DMP1):c.*35G>A rs2627724 0.27831
NM_004407.4(DMP1):c.1218C>T (p.Ser406=) rs2615498 0.15334
NM_004407.4(DMP1):c.*905A>G rs73843105 0.04782
NM_004407.4(DMP1):c.*280C>T rs76370957 0.04084
NM_004407.4(DMP1):c.*457T>C rs6842411 0.02615
NM_004407.4(DMP1):c.*329A>C rs6816379 0.02610
NM_004407.4(DMP1):c.*603C>T rs78837592 0.01450
NM_004407.4(DMP1):c.1388A>G (p.Lys463Arg) rs34661425 0.01341
NM_004407.4(DMP1):c.475C>A (p.Gln159Lys) rs79402270 0.00466
NM_004407.4(DMP1):c.*380C>T rs150349595 0.00387
NM_004407.4(DMP1):c.879T>C (p.Ser293=) rs150896376 0.00248
NM_004407.4(DMP1):c.815G>A (p.Arg272His) rs145237146 0.00202
NM_004407.4(DMP1):c.159C>T (p.Gly53=) rs144471060 0.00197
NM_004407.4(DMP1):c.639G>A (p.Glu213=) rs116732769 0.00193
NM_004407.4(DMP1):c.*918T>G rs146337309 0.00118
NM_004407.4(DMP1):c.600G>A (p.Gly200=) rs34682707 0.00111
NM_004407.4(DMP1):c.724T>C (p.Ser242Pro) rs147552663 0.00080
NM_004407.4(DMP1):c.312C>T (p.Asp104=) rs148543792 0.00070
NM_004407.4(DMP1):c.943G>C (p.Gly315Arg) rs149603030 0.00069
NM_004407.4(DMP1):c.*373T>A rs183996325 0.00061
NM_004407.4(DMP1):c.1023C>T (p.Ser341=) rs140807822 0.00056
NM_004407.4(DMP1):c.1107C>T (p.Asp369=) rs147451774 0.00049
NM_004407.4(DMP1):c.1356C>T (p.Asp452=) rs149026481 0.00043
NM_004407.4(DMP1):c.1433A>C (p.Asp478Ala) rs148156611 0.00043
NM_004407.4(DMP1):c.1255C>T (p.Pro419Ser) rs140275311 0.00036
NM_004407.4(DMP1):c.91G>A (p.Glu31Lys) rs202210004 0.00034
NM_004407.4(DMP1):c.*159T>A rs865870083 0.00030
NM_004407.4(DMP1):c.*527G>A rs554759690 0.00019
NM_004407.4(DMP1):c.55-3T>G rs181490843 0.00019
NM_004407.4(DMP1):c.996C>G (p.Asn332Lys) rs200882371 0.00017
NM_004407.4(DMP1):c.313G>A (p.Asp105Asn) rs142880465 0.00016
NM_004407.4(DMP1):c.428C>T (p.Thr143Ile) rs370153862 0.00014
NM_004407.4(DMP1):c.*61C>T rs886059688 0.00013
NM_004407.4(DMP1):c.674G>A (p.Ser225Asn) rs373051924 0.00008
NM_004407.4(DMP1):c.*77T>C rs963086141 0.00007
NM_004407.4(DMP1):c.*695T>A rs886059690 0.00006
NM_004407.4(DMP1):c.*131T>C rs992683383 0.00004
NM_004407.4(DMP1):c.*799T>C rs563220149 0.00004
NM_004407.4(DMP1):c.11G>C (p.Ser4Thr) rs373562639 0.00004
NM_004407.4(DMP1):c.370A>C (p.Lys124Gln) rs886059686 0.00003
NM_004407.4(DMP1):c.905G>T (p.Arg302Ile) rs376055601 0.00003
NM_004407.4(DMP1):c.*27C>T rs765769920 0.00001
NM_004407.4(DMP1):c.*438G>T rs925863986 0.00001
NM_004407.4(DMP1):c.*898G>T rs535279544 0.00001
NM_004407.4(DMP1):c.1333G>A (p.Glu445Lys) rs761098924 0.00001
NM_004407.4(DMP1):c.1408G>A (p.Glu470Lys) rs369921592 0.00001
NM_004407.4(DMP1):c.1448A>C (p.Asn483Thr) rs574215585 0.00001
NM_004407.4(DMP1):c.542G>A (p.Gly181Asp) rs529731862 0.00001
NM_004407.4(DMP1):c.658C>A (p.Pro220Thr) rs367695473 0.00001
NM_004407.4(DMP1):c.709A>G (p.Met237Val) rs201413886 0.00001
NM_004407.4(DMP1):c.*602C>A rs886059689
NM_004407.4(DMP1):c.*808G>A rs1729019747
NM_004407.4(DMP1):c.*850G>A rs570065274
NM_004407.4(DMP1):c.*875T>C rs1729022649
NM_004407.4(DMP1):c.1456A>G (p.Ile486Val) rs886059687
NM_004407.4(DMP1):c.1534G>A (p.Gly512Ser) rs377414504
NM_004407.4(DMP1):c.1538A>G (p.Tyr513Cys) rs1264750963
NM_004407.4(DMP1):c.289A>G (p.Lys97Glu) rs886059685
NM_004407.4(DMP1):c.844C>A (p.Leu282Ile) rs141979823

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