ClinVar Miner

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

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 53
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HGVS dbSNP gnomAD frequency
NM_001355436.2(SPTB):c.345T>C (p.Asn115=) rs17180518 0.00330
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.5651C>T (p.Ala1884Val) rs148337824 0.00150
NM_001355436.2(SPTB):c.5750C>T (p.Ser1917Phe) rs149678681 0.00147
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.6496C>G (p.Pro2166Ala) rs144051169 0.00136
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.4670A>G (p.Glu1557Gly) rs140648376 0.00113
NM_001355436.2(SPTB):c.6345+19T>A rs151232626 0.00113
NM_001355436.2(SPTB):c.3015C>T (p.Ala1005=) rs147235045 0.00102
NM_001355436.2(SPTB):c.2519G>A (p.Arg840His) rs146326769 0.00065
NM_001355436.2(SPTB):c.5855T>C (p.Ile1952Thr) rs138039383 0.00063
NM_001355436.2(SPTB):c.3016G>A (p.Ala1006Thr) rs151112486 0.00051
NM_001355436.2(SPTB):c.6174G>A (p.Thr2058=) rs146561732 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.5942G>A (p.Arg1981His) rs146513976 0.00045
NM_001355436.2(SPTB):c.1303G>C (p.Glu435Gln) rs149521594 0.00041
NM_001355436.2(SPTB):c.4001C>T (p.Ala1334Val) rs113139501 0.00036
NM_001355436.2(SPTB):c.26A>C (p.Asn9Thr) rs138437526 0.00034
NM_001355436.2(SPTB):c.1048G>A (p.Val350Met) rs141973081 0.00030
NM_001355436.2(SPTB):c.2480G>A (p.Arg827Gln) rs150013838 0.00028
NM_001355436.2(SPTB):c.1577C>T (p.Thr526Ile) rs145315673 0.00027
NM_001355436.2(SPTB):c.982C>T (p.Arg328Cys) rs143293179 0.00025
NM_001355436.2(SPTB):c.1027G>A (p.Ala343Thr) rs149837193 0.00022
NM_001355436.2(SPTB):c.6484G>A (p.Glu2162Lys) rs375816870 0.00020
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.4105A>G (p.Lys1369Glu) rs760803657 0.00011
NM_001355436.2(SPTB):c.4511C>T (p.Ala1504Val) rs200876438 0.00011
NM_001355436.2(SPTB):c.4973+4C>T rs758611621 0.00010
NM_001355436.2(SPTB):c.3425G>A (p.Arg1142Gln) rs141173028 0.00009
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.5279C>T (p.Ala1760Val) rs778913256 0.00003
NM_001355436.2(SPTB):c.5810C>G (p.Ser1937Cys) rs764560431 0.00003
NM_001355436.2(SPTB):c.3311C>G (p.Ala1104Gly) rs374648585 0.00002
NM_001355436.2(SPTB):c.5319C>T (p.Asp1773=) rs767020547 0.00001
NM_001355436.2(SPTB):c.6324G>A (p.Ala2108=) rs756164746 0.00001
NM_001355436.2(SPTB):c.1523G>A (p.Arg508His)
NM_001355436.2(SPTB):c.228C>G (p.Thr76=) rs748108358
NM_001355436.2(SPTB):c.2656G>T (p.Val886Leu) rs146031194
NM_001355436.2(SPTB):c.2696C>T (p.Thr899Ile)
NM_001355436.2(SPTB):c.3154G>A (p.Gly1052Ser)
NM_001355436.2(SPTB):c.5689A>G (p.Thr1897Ala)
NM_001355436.2(SPTB):c.65G>A (p.Arg22His)

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