ClinVar Miner

List of variants reported as uncertain significance for blood platelet disease by Natera, Inc.

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_005476.7(GNE):c.1267A>G (p.Ile423Val) rs35638832 0.00066
NM_005373.3(MPL):c.1336G>A (p.Gly446Arg) rs561818288 0.00049
NM_005373.3(MPL):c.1197G>A (p.Arg399=) rs148945299 0.00042
NM_005373.3(MPL):c.1102G>T (p.Val368Leu) rs149810307 0.00039
NM_005476.7(GNE):c.2004C>T (p.Ser668=) rs150045137 0.00038
NM_005476.7(GNE):c.1509C>G (p.Pro503=) rs141172610 0.00036
NM_005476.7(GNE):c.1933+3G>A rs370730412 0.00021
NM_005373.3(MPL):c.655C>G (p.Gln219Glu) rs142737453 0.00017
NM_005476.7(GNE):c.1412-4G>A rs146067766 0.00009
NM_005476.7(GNE):c.1442G>A (p.Arg481Gln) rs138357804 0.00009
NM_005373.3(MPL):c.1650C>T (p.Ser550=) rs377715574 0.00008
NM_005476.7(GNE):c.1412-5C>T rs369078814 0.00008
NM_005476.7(GNE):c.1651A>G (p.Ile551Val) rs754313408 0.00008
NM_005373.3(MPL):c.318G>A (p.Pro106=) rs370001905 0.00007
NM_005373.3(MPL):c.1446G>A (p.Arg482=) rs1046680606 0.00006
NM_005373.3(MPL):c.622C>A (p.Gln208Lys) rs111460954 0.00006
NM_005476.7(GNE):c.1070+5G>A rs374170125 0.00006
NM_005476.7(GNE):c.1871C>T (p.Ala624Val) rs200278654 0.00006
NM_005373.3(MPL):c.1002C>T (p.Cys334=) rs141526418 0.00005
NM_005373.3(MPL):c.1051C>T (p.Arg351Cys) rs201998783 0.00005
NM_005373.3(MPL):c.173C>T (p.Ala58Val) rs6087 0.00005
NM_005373.3(MPL):c.548C>T (p.Thr183Met) rs137952228 0.00004
NM_005476.7(GNE):c.1234G>A (p.Val412Ile) rs369714039 0.00004
NM_005476.7(GNE):c.1429C>T (p.Arg477Cys) rs551854437 0.00004
NM_005476.7(GNE):c.1572G>A (p.Ala524=) rs112824871 0.00004
NM_005476.7(GNE):c.1767A>G (p.Ala589=) rs777310871 0.00004
NM_005476.7(GNE):c.1908G>A (p.Ala636=) rs200812140 0.00004
NM_005476.7(GNE):c.725C>T (p.Ser242Leu) rs771167726 0.00004
NM_005476.7(GNE):c.828T>C (p.Phe276=) rs770346895 0.00004
NM_001128227.3(GNE):c.43G>C (p.Gly15Arg) rs762425552 0.00003
NM_005373.3(MPL):c.212G>A (p.Arg71Gln) rs368753117 0.00003
NM_005373.3(MPL):c.932C>T (p.Ser311Phe) rs776753502 0.00003
NM_005476.7(GNE):c.1070+7A>G rs149675783 0.00003
NM_005476.7(GNE):c.1413C>T (p.Gly471=) rs142836733 0.00003
NM_005476.7(GNE):c.1634-4G>T rs1021602666 0.00003
NM_005476.7(GNE):c.1816+4G>C rs760700813 0.00003
NM_005476.7(GNE):c.1907C>T (p.Ala636Val) rs756488394 0.00003
NM_005476.7(GNE):c.2044G>A (p.Val682Ile) rs768384042 0.00003
NM_005373.3(MPL):c.1645C>G (p.Leu549Val) rs746440317 0.00002
NM_005476.7(GNE):c.1003C>T (p.Arg335Trp) rs150132839 0.00002
NM_005476.7(GNE):c.1319A>C (p.Lys440Thr) rs769745306 0.00002
NM_005476.7(GNE):c.1598G>A (p.Gly533Glu) rs201808007 0.00002
NM_005476.7(GNE):c.1622T>C (p.Ile541Thr) rs369119154 0.00002
NM_005476.7(GNE):c.1681T>G (p.Ser561Ala) rs776760528 0.00002
NM_005476.7(GNE):c.2005G>A (p.Gly669Arg) rs776384541 0.00002
NM_005476.7(GNE):c.2029C>T (p.His677Tyr) rs527267621 0.00002
NM_001128227.3(GNE):c.78A>T (p.Lys26Asn) rs767777879 0.00001
NM_005373.3(MPL):c.1178C>T (p.Thr393Ile) rs779132175 0.00001
NM_005373.3(MPL):c.1463A>G (p.Glu488Gly) rs1328988667 0.00001
NM_005373.3(MPL):c.237G>C (p.Leu79=) rs769101640 0.00001
NM_005373.3(MPL):c.464A>T (p.Glu155Val) rs780341646 0.00001
NM_005476.7(GNE):c.1250C>T (p.Thr417Met) rs1554659711 0.00001
NM_005476.7(GNE):c.1251G>A (p.Thr417=) rs758086020 0.00001
NM_005476.7(GNE):c.1310T>C (p.Phe437Ser) rs370478702 0.00001
NM_005476.7(GNE):c.1327G>A (p.Glu443Lys) rs1337925138 0.00001
NM_005476.7(GNE):c.1354A>G (p.Met452Val) rs746051210 0.00001
NM_005476.7(GNE):c.1634-8C>T rs756876449 0.00001
NM_005476.7(GNE):c.1639G>T (p.Gly547Cys) rs1306768272 0.00001
NM_005476.7(GNE):c.1666T>C (p.Leu556=) rs765440649 0.00001
NM_005476.7(GNE):c.1807C>T (p.Leu603Phe) rs372732220 0.00001
NM_005476.7(GNE):c.2008G>T (p.Val670Phe) rs746449874 0.00001
NM_005476.7(GNE):c.2097G>A (p.Ser699=) rs200490682 0.00001
NM_005476.7(GNE):c.2113G>A (p.Ala705Thr) rs201216576 0.00001
NM_005373.3(MPL):c.1437C>T (p.Asp479=) rs865799838
NM_005373.3(MPL):c.844G>A (p.Gly282Arg) rs878854770
NM_005373.3(MPL):c.988A>T (p.Ile330Phe) rs1647056598
NM_005476.7(GNE):c.1281G>A (p.Lys427=) rs1554659670
NM_005476.7(GNE):c.1312A>G (p.Asn438Asp) rs2133024785
NM_005476.7(GNE):c.1332G>C (p.Glu444Asp) rs1554659040
NM_005476.7(GNE):c.1639G>A (p.Gly547Ser) rs1306768272
NM_005476.7(GNE):c.1670T>C (p.Ile557Thr) rs886043979
NM_005476.7(GNE):c.1730C>G (p.Pro577Arg) rs1828512489
NM_005476.7(GNE):c.1949G>A (p.Gly650Asp) rs1299435942
NM_005476.7(GNE):c.2050C>A (p.Arg684Ser) rs139347806
NM_005476.7(GNE):c.2050C>T (p.Arg684Cys) rs139347806
NM_005476.7(GNE):c.2086G>T (p.Val696Leu) rs121908627
NM_005476.7(GNE):c.2095T>A (p.Ser699Thr) rs1828371895
NM_005476.7(GNE):c.211A>T (p.Arg71Trp) rs886044539
NM_005476.7(GNE):c.498G>C (p.Gln166His) rs1829863461
NM_005476.7(GNE):c.769+3dup rs756817842
NM_005476.7(GNE):c.952C>G (p.Leu318Val) rs1554661032

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