ClinVar Miner

List of variants in gene SPTB reported as pathogenic for familial hemolytic anemia

Included ClinVar conditions (77):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_001355436.2(SPTB):c.4105A>G (p.Lys1369Glu) rs760803657 0.00011
NG_016202.2:g.(105169_105646)_(109769_110365)del
NM_001355436.2(SPTB):c.1024C>T (p.Gln342Ter) rs2139621075
NM_001355436.2(SPTB):c.1311del (p.Trp437fs)
NM_001355436.2(SPTB):c.1331_1338del (p.Leu444fs) rs1555370967
NM_001355436.2(SPTB):c.151G>T (p.Glu51Ter)
NM_001355436.2(SPTB):c.1591C>T (p.Gln531Ter)
NM_001355436.2(SPTB):c.1630dup (p.Met544fs)
NM_001355436.2(SPTB):c.189G>A (p.Trp63Ter)
NM_001355436.2(SPTB):c.1912C>T (p.Arg638Ter) rs2139596300
NM_001355436.2(SPTB):c.1912del (p.Arg638fs) rs863223304
NM_001355436.2(SPTB):c.1A>G (p.Met1Val) rs121918651
NM_001355436.2(SPTB):c.2092del (p.Gln698fs)
NM_001355436.2(SPTB):c.2165C>A (p.Ser722Ter)
NM_001355436.2(SPTB):c.2278C>T (p.Gln760Ter) rs2139594261
NM_001355436.2(SPTB):c.2423del (p.Gly808fs)
NM_001355436.2(SPTB):c.2521C>T (p.Gln841Ter)
NM_001355436.2(SPTB):c.2647del (p.Leu883fs) rs2139592237
NM_001355436.2(SPTB):c.2659C>T (p.Gln887Ter)
NM_001355436.2(SPTB):c.2749_2750del (p.Ser917fs)
NM_001355436.2(SPTB):c.2863C>T (p.Arg955Ter) rs1555369657
NM_001355436.2(SPTB):c.3055C>T (p.Gln1019Ter)
NM_001355436.2(SPTB):c.3106dup (p.Gln1036fs) rs2139567892
NM_001355436.2(SPTB):c.3351C>A (p.Tyr1117Ter)
NM_001355436.2(SPTB):c.3841C>T (p.Gln1281Ter)
NM_001355436.2(SPTB):c.3855+1G>A
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.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.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.4842+1G>C rs2139513700
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.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.5266C>T (p.Arg1756Ter) rs267607086
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.604T>C (p.Trp202Arg) rs121918646
NM_001355436.2(SPTB):c.6059_6060del (p.Val2020fs)
NM_001355436.2(SPTB):c.6095T>C (p.Leu2032Pro) rs1555366607
NM_001355436.2(SPTB):c.6536_6537del (p.Val2179fs)
NM_001355436.2(SPTB):c.85G>T (p.Glu29Ter)
NM_001355436.2(SPTB):c.999_1000del (p.Leu334fs)

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