ClinVar Miner

List of variants in gene SPTB studied for familial hemolytic anemia

Included ClinVar conditions (77):
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Gene type:
ClinVar version:
Total variants: 142
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HGVS dbSNP gnomAD frequency
NM_001355436.2(SPTB):c.4002+26T>C rs229634 0.53044
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.648-49G>A rs230704 0.36676
NM_001355436.2(SPTB):c.4474-42C>T rs1741486 0.34516
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.300+23C>T rs1353857 0.25252
NM_001355436.2(SPTB):c.1269G>A (p.Leu423=) rs229586 0.25102
NM_001355436.2(SPTB):c.3764+9G>A rs150423485 0.00537
NM_001355436.2(SPTB):c.3679C>T (p.Pro1227Ser) rs149186357 0.00141
NM_001355436.2(SPTB):c.2519G>A (p.Arg840His) rs146326769 0.00065
NM_001355436.2(SPTB):c.4474-17C>T rs192115079 0.00061
NM_001355436.2(SPTB):c.774G>A (p.Thr258=) rs12435635 0.00051
NM_001355436.2(SPTB):c.5680G>A (p.Gly1894Arg) rs116677071 0.00016
NM_001355436.2(SPTB):c.947C>T (p.Thr316Ile) rs146651264 0.00015
NM_001355436.2(SPTB):c.4105A>G (p.Lys1369Glu) rs760803657 0.00011
NM_001355436.2(SPTB):c.6271C>A (p.Pro2091Thr) rs372733273 0.00006
NM_001355436.2(SPTB):c.3764+8C>T rs200257205 0.00005
NM_001355436.2(SPTB):c.4837C>T (p.Pro1613Ser) rs375478086 0.00004
NM_001355436.2(SPTB):c.6068C>T (p.Ala2023Val) rs367841692 0.00004
NM_001355436.2(SPTB):c.4291C>T (p.Arg1431Ter) rs757836263 0.00002
NM_001355436.2(SPTB):c.220C>T (p.Arg74Cys) rs575005279 0.00001
NG_016202.2:g.(105169_105646)_(109769_110365)del
NM_001355436.2(SPTB):c.1024C>T (p.Gln342Ter) rs2139621075
NM_001355436.2(SPTB):c.1182+2T>C rs2139613101
NM_001355436.2(SPTB):c.1311del (p.Trp437fs)
NM_001355436.2(SPTB):c.1331_1338del (p.Leu444fs) rs1555370967
NM_001355436.2(SPTB):c.1465G>T (p.Glu489Ter)
NM_001355436.2(SPTB):c.146C>T (p.Ala49Val)
NM_001355436.2(SPTB):c.1509G>C (p.Lys503Asn)
NM_001355436.2(SPTB):c.151G>T (p.Glu51Ter)
NM_001355436.2(SPTB):c.1591C>T (p.Gln531Ter)
NM_001355436.2(SPTB):c.1618dup (p.Ser540fs)
NM_001355436.2(SPTB):c.1630dup (p.Met544fs)
NM_001355436.2(SPTB):c.1663G>A (p.Glu555Lys)
NM_001355436.2(SPTB):c.1759del (p.Ile587fs)
NM_001355436.2(SPTB):c.1795+1G>A rs786204766
NM_001355436.2(SPTB):c.189G>A (p.Trp63Ter)
NM_001355436.2(SPTB):c.1908del (p.Lys637fs)
NM_001355436.2(SPTB):c.1912C>T (p.Arg638Ter) rs2139596300
NM_001355436.2(SPTB):c.1912del (p.Arg638fs) rs863223304
NM_001355436.2(SPTB):c.1921A>T (p.Lys641Ter)
NM_001355436.2(SPTB):c.1A>G (p.Met1Val) rs121918651
NM_001355436.2(SPTB):c.2092del (p.Gln698fs)
NM_001355436.2(SPTB):c.2137C>T (p.Gln713Ter)
NM_001355436.2(SPTB):c.2163_2164dup (p.Ser722fs)
NM_001355436.2(SPTB):c.2165C>A (p.Ser722Ter)
NM_001355436.2(SPTB):c.2278C>T (p.Gln760Ter) rs2139594261
NM_001355436.2(SPTB):c.2401C>T (p.His801Tyr)
NM_001355436.2(SPTB):c.2423del (p.Gly808fs)
NM_001355436.2(SPTB):c.2521C>T (p.Gln841Ter)
NM_001355436.2(SPTB):c.2593G>A (p.Gly865Arg)
NM_001355436.2(SPTB):c.2617G>T (p.Glu873Ter)
NM_001355436.2(SPTB):c.2647del (p.Leu883fs) rs2139592237
NM_001355436.2(SPTB):c.2659C>T (p.Gln887Ter)
NM_001355436.2(SPTB):c.2711T>C (p.Ile904Thr)
NM_001355436.2(SPTB):c.2749_2750del (p.Ser917fs)
NM_001355436.2(SPTB):c.2863C>T (p.Arg955Ter) rs1555369657
NM_001355436.2(SPTB):c.2915A>G (p.Asp972Gly)
NM_001355436.2(SPTB):c.3005G>A (p.Arg1002His)
NM_001355436.2(SPTB):c.3055C>T (p.Gln1019Ter)
NM_001355436.2(SPTB):c.3082C>T (p.Gln1028Ter)
NM_001355436.2(SPTB):c.3088G>T (p.Glu1030Ter)
NM_001355436.2(SPTB):c.3106del (p.Gln1036fs)
NM_001355436.2(SPTB):c.3106dup (p.Gln1036fs) rs2139567892
NM_001355436.2(SPTB):c.3114delinsAAACAT (p.His1038fs)
NM_001355436.2(SPTB):c.3262del (p.Asp1088fs)
NM_001355436.2(SPTB):c.326G>A (p.Arg109His)
NM_001355436.2(SPTB):c.3351C>A (p.Tyr1117Ter)
NM_001355436.2(SPTB):c.3352C>T (p.Gln1118Ter)
NM_001355436.2(SPTB):c.3784_3787del (p.Lys1262fs) rs1594773586
NM_001355436.2(SPTB):c.3829C>T (p.Gln1277Ter)
NM_001355436.2(SPTB):c.3841C>T (p.Gln1281Ter)
NM_001355436.2(SPTB):c.3854A>C (p.Glu1285Ala)
NM_001355436.2(SPTB):c.3855+1G>A
NM_001355436.2(SPTB):c.3877A>T (p.Lys1293Ter) rs763084936
NM_001355436.2(SPTB):c.3916C>T (p.Arg1306Ter) rs150471537
NM_001355436.2(SPTB):c.3936G>A (p.Trp1312Ter) rs2139555500
NM_001355436.2(SPTB):c.3986_4001del (p.Leu1329fs)
NM_001355436.2(SPTB):c.4063G>T (p.Glu1355Ter) rs1566754467
NM_001355436.2(SPTB):c.413T>C (p.Ile138Thr) rs2082930394
NM_001355436.2(SPTB):c.4178del (p.Lys1393fs)
NM_001355436.2(SPTB):c.4267C>T (p.Arg1423Ter) rs1594767593
NM_001355436.2(SPTB):c.4368del (p.Ile1456fs)
NM_001355436.2(SPTB):c.4417C>T (p.Gln1473Ter)
NM_001355436.2(SPTB):c.4473+1G>A
NM_001355436.2(SPTB):c.4520G>T (p.Gly1507Val) rs2139530241
NM_001355436.2(SPTB):c.4563+12G>C rs1741489
NM_001355436.2(SPTB):c.4589A>G (p.His1530Arg)
NM_001355436.2(SPTB):c.4618A>G (p.Arg1540Gly)
NM_001355436.2(SPTB):c.467G>C (p.Arg156Pro)
NM_001355436.2(SPTB):c.472C>T (p.Gln158Ter)
NM_001355436.2(SPTB):c.4735C>T (p.Arg1579Ter) rs760938057
NM_001355436.2(SPTB):c.474+1G>A
NM_001355436.2(SPTB):c.4800dup (p.Gly1601fs)
NM_001355436.2(SPTB):c.4804G>A (p.Glu1602Lys)
NM_001355436.2(SPTB):c.4842+1G>C rs2139513700
NM_001355436.2(SPTB):c.4843-1G>C
NM_001355436.2(SPTB):c.4873C>T (p.Arg1625Ter) rs2139511447
NM_001355436.2(SPTB):c.493C>T (p.Gln165Ter)
NM_001355436.2(SPTB):c.4942C>T (p.Gln1648Ter)
NM_001355436.2(SPTB):c.4969G>T (p.Glu1657Ter)
NM_001355436.2(SPTB):c.4973+5G>A rs1555367789
NM_001355436.2(SPTB):c.5059dup (p.Glu1687fs)
NM_001355436.2(SPTB):c.5099del (p.Asp1700fs)
NM_001355436.2(SPTB):c.5114G>A (p.Trp1705Ter)
NM_001355436.2(SPTB):c.5178+1G>A
NM_001355436.2(SPTB):c.5266C>T (p.Arg1756Ter) rs267607086
NM_001355436.2(SPTB):c.5408del (p.Phe1803fs)
NM_001355436.2(SPTB):c.5446A>T (p.Lys1816Ter) rs1480466529
NM_001355436.2(SPTB):c.5455G>T (p.Glu1819Ter) rs200386310
NM_001355436.2(SPTB):c.545G>A (p.Trp182Ter)
NM_001355436.2(SPTB):c.5464G>T (p.Glu1822Ter)
NM_001355436.2(SPTB):c.5506_5507insCGTCCAGCCCTTCCACC (p.Arg1836fs)
NM_001355436.2(SPTB):c.5623C>T (p.Gln1875Ter) rs1555367359
NM_001355436.2(SPTB):c.5737dup (p.Arg1913fs)
NM_001355436.2(SPTB):c.5788G>T (p.Glu1930Ter)
NM_001355436.2(SPTB):c.5953C>T (p.Gln1985Ter)
NM_001355436.2(SPTB):c.604T>C (p.Trp202Arg) rs121918646
NM_001355436.2(SPTB):c.6055T>C (p.Ser2019Pro) rs121918648
NM_001355436.2(SPTB):c.6059_6060del (p.Val2020fs)
NM_001355436.2(SPTB):c.6074T>G (p.Leu2025Arg) rs121918649
NM_001355436.2(SPTB):c.6095T>C (p.Leu2032Pro) rs1555366607
NM_001355436.2(SPTB):c.6119C>T (p.Thr2040Ile) rs1345709572
NM_001355436.2(SPTB):c.6194_6195dup (p.Ala2066fs) rs1555366592
NM_001355436.2(SPTB):c.6351AGA[1] (p.Glu2119del) rs750154106
NM_001355436.2(SPTB):c.647+1G>A
NM_001355436.2(SPTB):c.647G>A (p.Arg216Gln) rs1555371769
NM_001355436.2(SPTB):c.6536_6537del (p.Val2179fs)
NM_001355436.2(SPTB):c.754G>A (p.Asp252Asn)
NM_001355436.2(SPTB):c.836A>C (p.Lys279Thr) rs770880582
NM_001355436.2(SPTB):c.85G>T (p.Glu29Ter)
NM_001355436.2(SPTB):c.865C>T (p.Arg289Cys)
NM_001355436.2(SPTB):c.884_925del (p.Asp295_Ser308del)
NM_001355436.2(SPTB):c.999_1000del (p.Leu334fs)

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