ClinVar Miner

List of variants studied for congenital neutropenia-myelofibrosis-nephromegaly syndrome by Natera, Inc.

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_007259.5(VPS45):c.1032A>G (p.Glu344=) rs74127419 0.03652
NM_007259.5(VPS45):c.246T>G (p.Ile82Met) rs62622370 0.03643
NM_007259.5(VPS45):c.570C>T (p.Cys190=) rs114087868 0.00487
NM_007259.5(VPS45):c.318C>T (p.Asp106=) rs150076399 0.00091
NM_007259.5(VPS45):c.290-10T>C rs192850081 0.00081
NM_007259.5(VPS45):c.566A>G (p.Glu189Gly) rs144659538 0.00061
NM_007259.5(VPS45):c.487A>G (p.Thr163Ala) rs146014368 0.00050
NM_007259.5(VPS45):c.-4C>T rs200563209 0.00026
NM_007259.5(VPS45):c.514T>C (p.Cys172Arg) rs191692092 0.00019
NM_007259.5(VPS45):c.625G>T (p.Val209Phe) rs201955039 0.00018
NM_007259.5(VPS45):c.1442G>A (p.Arg481Lys) rs151292369 0.00014
NM_007259.5(VPS45):c.1664G>A (p.Arg555Gln) rs142968690 0.00014
NM_007259.5(VPS45):c.614G>A (p.Arg205His) rs146660821 0.00014
NM_007259.5(VPS45):c.778A>G (p.Arg260Gly) rs587646859 0.00012
NM_007259.5(VPS45):c.1334C>G (p.Ala445Gly) rs781801888 0.00011
NM_007259.5(VPS45):c.1174G>A (p.Ala392Thr) rs782059726 0.00010
NM_007259.5(VPS45):c.1190G>A (p.Arg397Gln) rs373735080 0.00010
NM_007259.5(VPS45):c.897A>G (p.Pro299=) rs184193549 0.00010
NM_007259.5(VPS45):c.1197C>A (p.Ser399Arg) rs371572450 0.00009
NM_007259.5(VPS45):c.1395G>A (p.Gln465=) rs782595882 0.00008
NM_007259.5(VPS45):c.462G>A (p.Gln154=) rs781792682 0.00008
NM_007259.5(VPS45):c.785T>C (p.Val262Ala) rs148174305 0.00008
NM_007259.5(VPS45):c.1267G>C (p.Val423Leu) rs201002467 0.00007
NM_007259.5(VPS45):c.443G>A (p.Arg148Gln) rs370166172 0.00007
NM_007259.5(VPS45):c.571G>A (p.Val191Ile) rs200783288 0.00007
NM_007259.5(VPS45):c.577-5C>T rs1266646389 0.00005
NM_007259.5(VPS45):c.687G>C (p.Gln229His) rs200019200 0.00005
NM_007259.5(VPS45):c.939G>A (p.Ala313=) rs142461153 0.00005
NM_007259.5(VPS45):c.319G>A (p.Val107Met) rs782553177 0.00004
NM_007259.5(VPS45):c.369+8T>A rs201637627 0.00004
NM_007259.5(VPS45):c.390T>C (p.Ile130=) rs782273593 0.00004
NM_007259.5(VPS45):c.1019G>A (p.Arg340Gln) rs782749137 0.00003
NM_007259.5(VPS45):c.192A>T (p.Lys64Asn) rs1441537795 0.00003
NM_007259.5(VPS45):c.1033C>T (p.Arg345Trp) rs782225422 0.00002
NM_007259.5(VPS45):c.1133A>G (p.Lys378Arg) rs190896405 0.00002
NM_007259.5(VPS45):c.1157G>A (p.Arg386His) rs781997687 0.00002
NM_007259.5(VPS45):c.1371+5A>G rs369221126 0.00002
NM_007259.5(VPS45):c.1700C>T (p.Ala567Val) rs373074422 0.00002
NM_007259.5(VPS45):c.711C>T (p.His237=) rs782676481 0.00002
NM_007259.5(VPS45):c.1162G>A (p.Val388Met) rs782104716 0.00001
NM_007259.5(VPS45):c.1231A>G (p.Arg411Gly) rs782194772 0.00001
NM_007259.5(VPS45):c.1255T>C (p.Tyr419His) rs782431885 0.00001
NM_007259.5(VPS45):c.1448A>G (p.Lys483Arg) rs917642055 0.00001
NM_007259.5(VPS45):c.201G>A (p.Lys67=) rs782546296 0.00001
NM_007259.5(VPS45):c.257T>C (p.Leu86Pro) rs782513242 0.00001
NM_007259.5(VPS45):c.299A>G (p.Asn100Ser) rs139341274 0.00001
NM_007259.5(VPS45):c.353T>G (p.Val118Gly) rs1298740891 0.00001
NM_007259.5(VPS45):c.481G>A (p.Gly161Arg) rs200134576 0.00001
NM_007259.5(VPS45):c.580G>A (p.Val194Met) rs587713385 0.00001
NM_007259.5(VPS45):c.596A>C (p.Tyr199Ser) rs368347807 0.00001
NM_007259.5(VPS45):c.613C>T (p.Arg205Cys) rs908608470 0.00001
NM_007259.5(VPS45):c.617G>A (p.Arg206Gln) rs782495021 0.00001
NM_007259.5(VPS45):c.64A>G (p.Met22Val) rs782253570 0.00001
NM_007259.5(VPS45):c.718C>G (p.Leu240Val) rs587716374 0.00001
NM_007259.5(VPS45):c.857A>G (p.Asn286Ser) rs782164464 0.00001
NM_007259.5(VPS45):c.898A>G (p.Lys300Glu) rs782739886 0.00001
NM_007259.5(VPS45):c.915A>G (p.Leu305=) rs1385543985 0.00001
NM_007259.5(VPS45):c.1181A>G (p.His394Arg) rs1486347658
NM_007259.5(VPS45):c.1267G>A (p.Val423Met) rs201002467
NM_007259.5(VPS45):c.1371+9A>T rs368568806
NM_007259.5(VPS45):c.173A>G (p.Gln58Arg) rs1654862605
NM_007259.5(VPS45):c.419A>G (p.Asn140Ser) rs782339252
NM_007259.5(VPS45):c.702C>T (p.Ala234=) rs782301145
NM_007259.5(VPS45):c.739A>G (p.Ile247Val) rs1553799320

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