ClinVar Miner

Variants in gene SPTB with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 66
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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.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.4618A>C (p.Arg1540=) rs61989884 0.00322
NM_001355436.2(SPTB):c.4699G>C (p.Asp1567His) rs138126360 0.00318
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_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.40C>T (p.Pro14Ser) rs147059670 0.00150
NM_001355436.2(SPTB):c.6346-13dup rs555587693 0.00149
NM_001355436.2(SPTB):c.3679C>T (p.Pro1227Ser) rs149186357 0.00141
NM_001355436.2(SPTB):c.2881G>A (p.Val961Ile) rs149316006 0.00140
NM_001355436.2(SPTB):c.5050C>T (p.Arg1684Cys) rs141226650 0.00138
NM_001355436.2(SPTB):c.6045G>A (p.Ser2015=) rs149362111 0.00138
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.4670A>G (p.Glu1557Gly) rs140648376 0.00113
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.6174G>A (p.Thr2058=) rs146561732 0.00051
NM_001355436.2(SPTB):c.4075C>T (p.Arg1359Trp) rs189656371 0.00048
NM_001355436.2(SPTB):c.26A>C (p.Asn9Thr) rs138437526 0.00034
NM_001355436.2(SPTB):c.2480G>A (p.Arg827Gln) rs150013838 0.00028
NM_001355436.2(SPTB):c.5943C>T (p.Arg1981=) rs75000411 0.00013
NM_001355436.2(SPTB):c.4511C>T (p.Ala1504Val) rs200876438 0.00011
NM_001355436.2(SPTB):c.1773C>G (p.Thr591=) rs565667858 0.00010
NM_001355436.2(SPTB):c.4143C>T (p.Ser1381=) rs148504156 0.00008
NM_001355436.2(SPTB):c.2136G>A (p.Pro712=)
NM_001355436.2(SPTB):c.2256G>A (p.Ala752=)
NM_001355436.2(SPTB):c.3334G>A (p.Gly1112Arg)
NM_001355436.2(SPTB):c.4563+12G>C rs1741489
NM_001355436.2(SPTB):c.534G>A (p.Ala178=)
NM_001355436.2(SPTB):c.6483C>T (p.Ser2161=) rs143820600

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