ClinVar Miner

List of variants in gene SPTB reported as benign by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
ClinVar version:
Total variants: 55
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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.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.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.6220-16C>A rs78459089 0.00690
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.3764+9G>A rs150423485 0.00537
NM_001355436.2(SPTB):c.996C>T (p.Asn332=) rs141060172 0.00483
NM_001355436.2(SPTB):c.301-18G>A rs116588454 0.00388
NM_001355436.2(SPTB):c.345T>C (p.Asn115=) rs17180518 0.00330
NM_001355436.2(SPTB):c.4618A>C (p.Arg1540=) rs61989884 0.00322
NM_001355436.2(SPTB):c.4236C>T (p.Thr1412=) rs229639 0.00286
NM_001355436.2(SPTB):c.6346-13dup rs555587693 0.00149
NM_001355436.2(SPTB):c.1512C>T (p.Asp504=) rs150968094 0.00133
NM_001355436.2(SPTB):c.2562C>T (p.Phe854=) rs12433436 0.00129
NM_001355436.2(SPTB):c.6399T>C (p.Gly2133=) rs190118021 0.00123
NM_001355436.2(SPTB):c.204G>A (p.Leu68=) rs145077630 0.00105
NM_001355436.2(SPTB):c.5277C>T (p.Asp1759=) rs73273601 0.00093
NM_001355436.2(SPTB):c.4474-17C>T rs192115079 0.00061
NM_001355436.2(SPTB):c.6174G>A (p.Thr2058=) rs146561732 0.00051
NM_001355436.2(SPTB):c.96T>C (p.Asn32=) rs141340359 0.00034
NM_001355436.2(SPTB):c.1791G>A (p.Gly597=) rs200814169 0.00006
NM_001355436.2(SPTB):c.1342-11C>T
NM_001355436.2(SPTB):c.1350T>C (p.Phe450=)
NM_001355436.2(SPTB):c.1431G>A (p.Arg477=) rs886050626
NM_001355436.2(SPTB):c.2805-5G>A
NM_001355436.2(SPTB):c.4563+12G>C rs1741489
NM_001355436.2(SPTB):c.5553+15dup rs368080074
NM_001355436.2(SPTB):c.6270-8_6270-6dup rs528966701
NM_001355436.2(SPTB):c.6483C>T (p.Ser2161=) rs143820600

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