ClinVar Miner

Variants in gene SOS1 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 53
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HGVS dbSNP gnomAD frequency
NM_005633.4(SOS1):c.3391+7A>G rs201982464 0.00066
NM_005633.4(SOS1):c.749T>C (p.Val250Ala) rs139290271 0.00054
NM_005633.4(SOS1):c.698A>G (p.Asn233Ser) rs144934321 0.00026
NM_005633.4(SOS1):c.1705C>G (p.Leu569Val) rs200786705 0.00019
NM_005633.4(SOS1):c.233T>G (p.Phe78Cys) rs201352584 0.00019
NM_005633.4(SOS1):c.*4C>T rs188849286 0.00018
NM_005633.4(SOS1):c.3286T>A (p.Ser1096Thr) rs376722127 0.00017
NM_005633.4(SOS1):c.2966G>A (p.Arg989Lys) rs202043599 0.00016
NM_005633.4(SOS1):c.3706C>A (p.Pro1236Thr) rs727504636 0.00016
NM_005633.4(SOS1):c.3709C>G (p.Pro1237Ala) rs371408734 0.00016
NM_005633.4(SOS1):c.1668A>C (p.Val556=) rs376314461 0.00013
NM_005633.4(SOS1):c.3600C>G (p.Asp1200Glu) rs141594736 0.00013
NM_005633.4(SOS1):c.3946C>G (p.His1316Asp) rs371024396 0.00013
NM_005633.4(SOS1):c.3418T>A (p.Leu1140Ile) rs375550588 0.00010
NM_005633.4(SOS1):c.553A>G (p.Ile185Val) rs143962515 0.00010
NM_005633.4(SOS1):c.244A>G (p.Ile82Val) rs397517157 0.00009
NM_005633.4(SOS1):c.280A>G (p.Ile94Val) rs144757941 0.00009
NM_005633.4(SOS1):c.3322G>A (p.Asp1108Asn) rs199856844 0.00009
NM_005633.4(SOS1):c.1829T>C (p.Ile610Thr) rs776146535 0.00007
NM_005633.4(SOS1):c.3269C>T (p.Pro1090Leu) rs730881034 0.00007
NM_005633.4(SOS1):c.3729C>G (p.Asp1243Glu) rs730881026 0.00007
NM_005633.4(SOS1):c.2225T>C (p.Ile742Thr) rs767494615 0.00006
NM_005633.4(SOS1):c.3769A>G (p.Thr1257Ala) rs553805862 0.00006
NM_005633.4(SOS1):c.929G>A (p.Arg310His) rs143481916 0.00006
NM_005633.4(SOS1):c.2312T>C (p.Ile771Thr) rs557328600 0.00005
NM_005633.4(SOS1):c.3387C>T (p.Gly1129=) rs772823827 0.00005
NM_005633.4(SOS1):c.115G>A (p.Glu39Lys) rs375934353 0.00004
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln) rs371314838 0.00004
NM_005633.4(SOS1):c.2587C>A (p.Gln863Lys) rs141501083 0.00004
NM_005633.4(SOS1):c.3859A>G (p.Ile1287Val) rs760917490 0.00004
NM_005633.4(SOS1):c.3802G>A (p.Gly1268Ser) rs730881051 0.00003
NM_005633.4(SOS1):c.1202+5A>G rs1021449471 0.00002
NM_005633.4(SOS1):c.1772A>G (p.Asn591Ser) rs757213444 0.00002
NM_005633.4(SOS1):c.2996A>G (p.Asn999Ser) rs765070830 0.00002
NM_005633.4(SOS1):c.3329C>T (p.Ser1110Leu) rs572955351 0.00002
NM_005633.4(SOS1):c.3836C>T (p.Thr1279Ile) rs758258471 0.00002
NM_005633.4(SOS1):c.3838C>A (p.Gln1280Lys) rs548519280 0.00002
NM_005633.4(SOS1):c.2728G>C (p.Asp910His) rs369277679 0.00001
NM_005633.4(SOS1):c.2998A>T (p.Ser1000Cys) rs730881031 0.00001
NM_005633.4(SOS1):c.2999G>A (p.Ser1000Asn) rs891035934 0.00001
NM_005633.4(SOS1):c.3282T>G (p.Gly1094=) rs145357714 0.00001
NM_005633.4(SOS1):c.3391+3T>C rs761579423 0.00001
NM_005633.4(SOS1):c.350T>G (p.Val117Gly) rs201085754 0.00001
NM_005633.3(SOS1):c.2511-9dup rs727503436
NM_005633.4(SOS1):c.*1694del rs767903412
NM_005633.4(SOS1):c.*3189_*3192del rs572584074
NM_005633.4(SOS1):c.1977T>A (p.Asp659Glu) rs1362181978
NM_005633.4(SOS1):c.1987A>G (p.Ile663Val) rs730881024
NM_005633.4(SOS1):c.1989A>C (p.Ile663=) rs587781172
NM_005633.4(SOS1):c.3322G>C (p.Asp1108His) rs199856844
NM_005633.4(SOS1):c.3601C>T (p.Arg1201Trp) rs752395541
NM_005633.4(SOS1):c.3709C>A (p.Pro1237Thr) rs371408734
NM_005633.4(SOS1):c.3770C>T (p.Thr1257Ile) rs962478091

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