ClinVar Miner

List of variants reported as uncertain significance for Elliptocytosis by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 107
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001355436.2(SPTB):c.345T>C (p.Asn115=) rs17180518 0.00330
NM_001355436.2(SPTB):c.1896A>G (p.Gln632=) rs74056006 0.00222
NM_001355436.2(SPTB):c.5052C>T (p.Arg1684=) rs229593 0.00197
NM_003126.4(SPTA1):c.*97_*98insATGTGT rs1553221961 0.00186
NM_001355436.2(SPTB):c.5463C>T (p.Pro1821=) rs114513294 0.00176
NM_001355436.2(SPTB):c.807T>C (p.Tyr269=) rs115882528 0.00155
NM_001355436.2(SPTB):c.1512C>T (p.Asp504=) rs150968094 0.00133
NM_001355436.2(SPTB):c.5915G>A (p.Arg1972Gln) rs140141633 0.00132
NM_001355436.2(SPTB):c.414T>C (p.Ile138=) rs139699062 0.00130
NM_001355436.2(SPTB):c.-23G>A rs371035446 0.00120
NM_001355436.2(SPTB):c.204G>A (p.Leu68=) rs145077630 0.00105
NM_001355436.2(SPTB):c.3015C>T (p.Ala1005=) rs147235045 0.00102
NM_001355436.2(SPTB):c.5277C>T (p.Asp1759=) rs73273601 0.00093
NM_001355436.2(SPTB):c.1606G>A (p.Asp536Asn) rs145675502 0.00068
NM_001355436.2(SPTB):c.6174G>A (p.Thr2058=) rs146561732 0.00051
NM_001355436.2(SPTB):c.6345+317G>A rs572325909 0.00051
NM_001355436.2(SPTB):c.3479G>A (p.Arg1160His) rs76283214 0.00048
NM_001355436.2(SPTB):c.4075C>T (p.Arg1359Trp) rs189656371 0.00048
NM_001355436.2(SPTB):c.4563+11C>T rs368290807 0.00046
NM_001355436.2(SPTB):c.4782C>T (p.Asp1594=) rs138279396 0.00043
NM_001355436.2(SPTB):c.1303G>C (p.Glu435Gln) rs149521594 0.00041
NM_001355436.2(SPTB):c.26A>C (p.Asn9Thr) rs138437526 0.00034
NM_001355436.2(SPTB):c.96T>C (p.Asn32=) rs141340359 0.00034
NM_001355436.2(SPTB):c.1048G>A (p.Val350Met) rs141973081 0.00030
NM_001355436.2(SPTB):c.1577C>T (p.Thr526Ile) rs145315673 0.00027
NM_001355436.2(SPTB):c.773C>T (p.Thr258Met) rs138841945 0.00022
NM_001355436.2(SPTB):c.947C>T (p.Thr316Ile) rs146651264 0.00015
NM_001355436.2(SPTB):c.2116C>T (p.Arg706Cys) rs184962510 0.00014
NM_001355436.2(SPTB):c.2250C>T (p.Gly750=) rs200908449 0.00014
NM_001355436.2(SPTB):c.5943C>T (p.Arg1981=) rs75000411 0.00013
NM_001355436.2(SPTB):c.3103C>T (p.Arg1035Trp) rs143827332 0.00011
NM_001355436.2(SPTB):c.5467G>A (p.Asp1823Asn) rs200508249 0.00011
NM_001355436.2(SPTB):c.4973+4C>T rs758611621 0.00010
NM_001355436.2(SPTB):c.2979C>G (p.Ile993Met) rs764571605 0.00009
NM_001355436.2(SPTB):c.3425G>A (p.Arg1142Gln) rs141173028 0.00009
NM_001355436.2(SPTB):c.1493G>A (p.Arg498His) rs140796444 0.00008
NM_001355436.2(SPTB):c.3624G>A (p.Arg1208=) rs200385949 0.00008
NM_001355436.2(SPTB):c.3780C>T (p.Asn1260=) rs191583247 0.00008
NM_001355436.2(SPTB):c.2149C>T (p.Arg717Cys) rs538347576 0.00007
NM_001355436.2(SPTB):c.6236G>A (p.Arg2079His) rs200787781 0.00007
NM_001355436.2(SPTB):c.1328G>A (p.Arg443His) rs752079707 0.00006
NM_001355436.2(SPTB):c.1342G>A (p.Asp448Asn) rs150698819 0.00006
NM_001355436.2(SPTB):c.221G>A (p.Arg74His) rs757763783 0.00006
NM_001355436.2(SPTB):c.5928C>G (p.Ala1976=) rs375654121 0.00005
NM_001355436.2(SPTB):c.4837C>T (p.Pro1613Ser) rs375478086 0.00004
NM_001355436.2(SPTB):c.646C>T (p.Arg216Trp) rs764534275 0.00004
NM_001355436.2(SPTB):c.1286G>A (p.Arg429Gln) rs780179918 0.00003
NM_001355436.2(SPTB):c.2441G>A (p.Arg814Gln) rs144219025 0.00003
NM_001355436.2(SPTB):c.3091G>T (p.Asp1031Tyr) rs1047765 0.00003
NM_001355436.2(SPTB):c.3855+7C>A rs774462377 0.00003
NM_001355436.2(SPTB):c.5294C>T (p.Ala1765Val) rs756366285 0.00003
NM_001355436.2(SPTB):c.5456A>T (p.Glu1819Val) rs201267737 0.00003
NM_001355436.2(SPTB):c.5810C>G (p.Ser1937Cys) rs764560431 0.00003
NM_001355436.2(SPTB):c.1504C>T (p.Arg502Cys) rs755636829 0.00002
NM_001355436.2(SPTB):c.2108T>C (p.Met703Thr) rs755434241 0.00002
NM_001355436.2(SPTB):c.3311C>G (p.Ala1104Gly) rs374648585 0.00002
NM_001355436.2(SPTB):c.6345+203C>T rs886050611 0.00002
NM_003126.4(SPTA1):c.2572A>G (p.Lys858Glu) rs767236735 0.00002
NM_001355436.2(SPTB):c.1796G>A (p.Gly599Glu) rs886050623 0.00001
NM_001355436.2(SPTB):c.1866G>A (p.Leu622=) rs746055042 0.00001
NM_001355436.2(SPTB):c.18G>C (p.Glu6Asp) rs753928319 0.00001
NM_001355436.2(SPTB):c.2005C>T (p.Leu669=) rs886050622 0.00001
NM_001355436.2(SPTB):c.4076G>A (p.Arg1359Gln) rs199780681 0.00001
NM_001355436.2(SPTB):c.4564-7G>A rs766420023 0.00001
NM_001355436.2(SPTB):c.5319C>T (p.Asp1773=) rs767020547 0.00001
NM_001355436.2(SPTB):c.5439C>T (p.Ile1813=) rs774241447 0.00001
NM_001355436.2(SPTB):c.5775G>T (p.Gln1925His) rs773780733 0.00001
NM_001355436.2(SPTB):c.6269+7G>T rs886050612 0.00001
NM_001355436.2(SPTB):c.6324G>A (p.Ala2108=) rs756164746 0.00001
NM_001004478.2(OR10Z1):c.*3753AC[14] rs55832242
NM_001004478.2(OR10Z1):c.*3753AC[15] rs55832242
NM_001004478.2(OR10Z1):c.*3753AC[16] rs55832242
NM_001004478.2(OR10Z1):c.*3753AC[18] rs55832242
NM_001004478.2(OR10Z1):c.*3753AC[20] rs55832242
NM_001004478.2(OR10Z1):c.*3753AC[21] rs55832242
NM_001004478.2(OR10Z1):c.*3753AC[23] rs55832242
NM_001355436.2(SPTB):c.1431G>A (p.Arg477=) rs886050626
NM_001355436.2(SPTB):c.1561C>T (p.Arg521Cys) rs886050625
NM_001355436.2(SPTB):c.1795+9A>C rs886050624
NM_001355436.2(SPTB):c.2188G>A (p.Asp730Asn) rs867858924
NM_001355436.2(SPTB):c.228C>G (p.Thr76=) rs748108358
NM_001355436.2(SPTB):c.2419C>G (p.Gln807Glu) rs886050621
NM_001355436.2(SPTB):c.2656G>T (p.Val886Leu) rs146031194
NM_001355436.2(SPTB):c.3536A>G (p.Gln1179Arg) rs886050620
NM_001355436.2(SPTB):c.4176C>T (p.Asn1392=) rs886050619
NM_001355436.2(SPTB):c.4349G>T (p.Gly1450Val) rs886050618
NM_001355436.2(SPTB):c.4606G>C (p.Asp1536His) rs886050617
NM_001355436.2(SPTB):c.4651G>T (p.Asp1551Tyr) rs760176952
NM_001355436.2(SPTB):c.4973+12C>T rs886050616
NM_001355436.2(SPTB):c.5112G>T (p.Gln1704His) rs886050615
NM_001355436.2(SPTB):c.5181T>C (p.Leu1727=) rs886050614
NM_001355436.2(SPTB):c.5255C>G (p.Ala1752Gly) rs772761835
NM_001355436.2(SPTB):c.5530G>C (p.Glu1844Gln) rs886050613
NM_001355436.2(SPTB):c.6270-8_6270-6dup rs528966701
NM_001355436.2(SPTB):c.6345+251G>A rs543583423
NM_001355436.2(SPTB):c.940C>G (p.Leu314Val) rs886050627
NM_003126.4(SPTA1):c.-121dup rs368830436
NM_003126.4(SPTA1):c.-58CT[12] rs111674514
NM_003126.4(SPTA1):c.-58CT[16] rs111674514
NM_003126.4(SPTA1):c.1834-12_1834-10del rs886045390
NM_003126.4(SPTA1):c.1834-14del rs3039789
NM_003126.4(SPTA1):c.1834-15_1834-14del rs3039789
NM_003126.4(SPTA1):c.1834-16_1834-14del rs3039789
NM_003126.4(SPTA1):c.5911-17_5911-8del rs554241455
NM_003126.4(SPTA1):c.6120+11del rs750152009
NM_003126.4(SPTA1):c.6789-19_6789-17dup rs5778083
NM_003126.4(SPTA1):c.6789-6_6789-5dup rs766430823

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.