ClinVar Miner

List of variants studied for Elliptocytosis by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 155
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HGVS dbSNP gnomAD frequency
NM_001355436.2(SPTB):c.2154A>C (p.Ile718=) rs229591 0.44391
NM_001355436.2(SPTB):c.1316G>A (p.Ser439Asn) rs229587 0.42630
NM_001355436.2(SPTB):c.300+7T>C rs229581 0.41899
NM_001355436.2(SPTB):c.4860T>C (p.Ile1620=) rs229592 0.41773
NM_001355436.2(SPTB):c.4293A>G (p.Arg1431=) rs1626923 0.40570
NM_001355436.2(SPTB):c.3451A>G (p.Asn1151Asp) rs77806 0.38794
NM_001355436.2(SPTB):c.876+5A>G rs230703 0.36832
NM_001355436.2(SPTB):c.4476T>C (p.Leu1492=) rs1741487 0.34432
NM_001355436.2(SPTB):c.4482G>A (p.Val1494=) rs1741488 0.34424
NM_001355436.2(SPTB):c.4641G>A (p.Ala1547=) rs184528 0.34399
NM_001355436.2(SPTB):c.1269G>A (p.Leu423=) rs229586 0.25102
NM_001355436.2(SPTB):c.6023-8C>T rs56181906 0.17449
NM_001355436.2(SPTB):c.6269+13C>T rs11622977 0.17268
NM_001355436.2(SPTB):c.5799-7C>T rs7142689 0.17051
NM_001355436.2(SPTB):c.6345+321A>G rs189086 0.12753
NM_001355436.2(SPTB):c.4208G>A (p.Arg1403Gln) rs17180350 0.06645
NM_001355436.2(SPTB):c.4003-12T>C rs78707026 0.06057
NM_001355436.2(SPTB):c.408C>T (p.His136=) rs11623956 0.06031
NM_001355436.2(SPTB):c.4222G>C (p.Gly1408Arg) rs17245552 0.06024
NM_001355436.2(SPTB):c.4818C>T (p.Tyr1606=) rs4899145 0.05960
NM_001355436.2(SPTB):c.4564-4G>A rs4902312 0.05860
NM_001355436.2(SPTB):c.4779A>G (p.Ala1593=) rs4902310 0.05857
NM_001355436.2(SPTB):c.4752C>T (p.Asn1584=) rs4902311 0.05828
NM_001355436.2(SPTB):c.5535C>T (p.Leu1845=) rs17180252 0.05745
NM_001355436.2(SPTB):c.6345+162G>C rs229601 0.04555
NM_001355436.2(SPTB):c.177C>T (p.Thr59=) rs2277503 0.04465
NM_001355436.2(SPTB):c.4121A>G (p.His1374Arg) rs10132778 0.03447
NM_001355436.2(SPTB):c.666T>C (p.Phe222=) rs17102119 0.01896
NM_001355436.2(SPTB):c.2934G>A (p.Glu978=) rs72724498 0.01536
NM_001355436.2(SPTB):c.609G>A (p.Lys203=) rs74666863 0.00811
NM_001355436.2(SPTB):c.1765G>A (p.Ala589Thr) rs61459051 0.00757
NM_001355436.2(SPTB):c.1707G>A (p.Lys569=) rs139116435 0.00656
NM_001355436.2(SPTB):c.5554-3C>T rs190765118 0.00555
NM_001355436.2(SPTB):c.996C>T (p.Asn332=) rs141060172 0.00483
NM_001355436.2(SPTB):c.345T>C (p.Asn115=) rs17180518 0.00330
NM_001355436.2(SPTB):c.4236C>T (p.Thr1412=) rs229639 0.00286
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.2562C>T (p.Phe854=) rs12433436 0.00129
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.1838G>T (p.Ser613Ile) rs3742601 0.00103
NM_001355436.2(SPTB):c.3015C>T (p.Ala1005=) rs147235045 0.00102
NM_001355436.2(SPTB):c.2060G>A (p.Arg687His) rs3742602 0.00101
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.2303G>A (p.Gly768Asp) rs147712872 0.00043
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.4511C>T (p.Ala1504Val) rs200876438 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.4563+12G>C rs1741489
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.*500del rs34122435
NM_003126.4(SPTA1):c.-121dup rs368830436
NM_003126.4(SPTA1):c.-126_-125insTC rs59027997
NM_003126.4(SPTA1):c.-126dup rs34783066
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.6121-11del rs548425429
NM_003126.4(SPTA1):c.6789-19_6789-17dup rs5778083
NM_003126.4(SPTA1):c.6789-19_6789-18dup rs5778083
NM_003126.4(SPTA1):c.6789-19dup rs5778083
NM_003126.4(SPTA1):c.6789-6_6789-5dup rs766430823
NM_003126.4(SPTA1):c.6789-8del rs5778083

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