ClinVar Miner

List of variants in gene SGCG studied for not provided

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Gene type:
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Total variants: 150
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HGVS dbSNP gnomAD frequency
NM_000231.3(SGCG):c.703-53C>T rs9510700 0.77702
NM_000231.3(SGCG):c.196-282A>T rs9510643 0.66038
NM_000231.3(SGCG):c.505+335T>C rs9317612 0.63539
NM_000231.3(SGCG):c.312T>G (p.Leu104=) rs1800351 0.47318
NM_000231.3(SGCG):c.579-28T>G rs1536727 0.42785
NM_000231.3(SGCG):c.579-30T>G rs1536726 0.40128
NM_000231.3(SGCG):c.579-32T>G rs1536725 0.39650
NM_000231.3(SGCG):c.578+281T>C rs4411362 0.35909
NM_000231.3(SGCG):c.196-281A>T rs9510644 0.30340
NM_000231.3(SGCG):c.505+149T>C rs61946706 0.19761
NM_000231.3(SGCG):c.579-22del rs138499218 0.17470
NM_000231.3(SGCG):c.860= (p.Asn287=) rs1800354 0.16253
NM_000231.3(SGCG):c.196-197G>C rs7994953 0.15280
NM_000231.3(SGCG):c.228T>C (p.Asp76=) rs1800350 0.15152
NM_000231.3(SGCG):c.-88G>A rs4770403 0.15108
NM_000231.3(SGCG):c.297+63A>C rs4769246 0.14951
NM_000231.3(SGCG):c.386-30A>G rs66844808 0.10864
NM_000231.3(SGCG):c.505+83G>T rs17374896 0.08156
NM_000231.3(SGCG):c.702+252G>T rs4770431 0.06186
NM_000231.3(SGCG):c.702+326C>T rs4770432 0.06181
NM_000231.3(SGCG):c.385+164G>A rs111626620 0.04666
NM_000231.3(SGCG):c.578+145G>C rs41283950 0.03353
NM_000231.3(SGCG):c.297+108C>T rs17078517 0.03161
NM_000231.3(SGCG):c.578+244C>T rs76775559 0.02487
NM_000231.3(SGCG):c.505+46T>A rs17078558 0.02013
NM_000231.3(SGCG):c.*113_*127del rs149533619 0.01200
NM_000231.3(SGCG):c.297+304T>A rs114868240 0.01158
NM_000231.3(SGCG):c.297+132T>G rs73435024 0.01093
NM_000231.3(SGCG):c.435C>T (p.Asn145=) rs35628352 0.00973
NM_000231.3(SGCG):c.702+331C>T rs117038274 0.00944
NM_000231.3(SGCG):c.386-104C>G rs74716052 0.00903
NM_000231.3(SGCG):c.-1+219T>C rs79029558 0.00888
NM_000231.3(SGCG):c.703-233G>A rs192500886 0.00809
NM_000231.3(SGCG):c.-6T>C rs141771521 0.00749
NM_000231.3(SGCG):c.703-142G>A rs116138578 0.00707
NM_000231.3(SGCG):c.*296G>A rs115862132 0.00705
NM_000231.3(SGCG):c.579-22dup rs397948582 0.00645
NM_000231.3(SGCG):c.297+102C>T rs143965851 0.00589
NM_000231.3(SGCG):c.*302G>T rs78718194 0.00535
NM_000231.3(SGCG):c.*185G>A rs115918628 0.00447
NM_000231.3(SGCG):c.702+287C>T rs183437224 0.00445
NM_000231.3(SGCG):c.1-174A>C rs112672390 0.00368
NM_000231.3(SGCG):c.1-244T>G rs113514818 0.00367
NM_000231.3(SGCG):c.1-92C>T rs114229961 0.00367
NM_000231.3(SGCG):c.195+151A>G rs183517780 0.00363
NM_000231.3(SGCG):c.196-28C>T rs116140859 0.00115
NM_000231.3(SGCG):c.539A>T (p.Glu180Val) rs114160429 0.00101
NM_000231.3(SGCG):c.58A>G (p.Asn20Asp) rs763248287 0.00058
NM_000231.3(SGCG):c.157C>T (p.Leu53Phe) rs138880406 0.00039
NM_000231.3(SGCG):c.579-34T>G rs540938640 0.00033
NM_000231.3(SGCG):c.8G>A (p.Arg3His) rs35105771 0.00031
NM_000231.3(SGCG):c.235C>T (p.Arg79Cys) rs148404730 0.00027
NM_000231.3(SGCG):c.196-3C>T rs765273430 0.00016
NM_000231.3(SGCG):c.596G>A (p.Arg199Gln) rs200191311 0.00016
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys) rs104894423 0.00016
NM_000231.3(SGCG):c.438C>T (p.Asp146=) rs144497243 0.00014
NM_000231.3(SGCG):c.803C>T (p.Pro268Leu) rs143110015 0.00014
NM_000231.3(SGCG):c.102C>T (p.Arg34=) rs140810408 0.00011
NM_000231.3(SGCG):c.653T>C (p.Ile218Thr) rs202045534 0.00011
NM_000231.3(SGCG):c.17A>G (p.Tyr6Cys) rs148041867 0.00009
NM_000231.3(SGCG):c.506-7T>G rs774582375 0.00009
NM_000231.3(SGCG):c.142G>A (p.Val48Ile) rs369936288 0.00008
NM_000231.3(SGCG):c.455C>T (p.Thr152Ile) rs201329880 0.00008
NM_000231.3(SGCG):c.564G>A (p.Pro188=) rs367595212 0.00008
NM_000231.3(SGCG):c.792C>G (p.Ile264Met) rs377620885 0.00007
NM_000231.3(SGCG):c.302C>T (p.Ser101Leu) rs886042370 0.00006
NM_000231.3(SGCG):c.385G>A (p.Gly129Ser) rs747046381 0.00006
NM_000231.3(SGCG):c.436G>A (p.Asp146Asn) rs373442790 0.00006
NM_000231.3(SGCG):c.101G>A (p.Arg34His) rs755404457 0.00005
NM_000231.3(SGCG):c.414A>G (p.Gln138=) rs770596449 0.00005
NM_000231.3(SGCG):c.195+1G>C rs200502077 0.00004
NM_000231.3(SGCG):c.303A>C (p.Ser101=) rs144277094 0.00004
NM_000231.3(SGCG):c.1-3C>T rs373335254 0.00003
NM_000231.3(SGCG):c.753G>A (p.Thr251=) rs748332364 0.00003
NM_000231.3(SGCG):c.407A>G (p.Gln136Arg) rs569816696 0.00002
NM_000231.3(SGCG):c.643G>A (p.Ala215Thr) rs770020910 0.00002
NM_000231.3(SGCG):c.735C>T (p.Pro245=) rs373785384 0.00002
NM_000231.3(SGCG):c.1-8C>T rs745599370 0.00001
NM_000231.3(SGCG):c.100C>T (p.Arg34Cys) rs747549369 0.00001
NM_000231.3(SGCG):c.190T>C (p.Ser64Pro) rs886042587 0.00001
NM_000231.3(SGCG):c.196-6T>A rs1165407566 0.00001
NM_000231.3(SGCG):c.230G>C (p.Gly77Ala) rs886043950 0.00001
NM_000231.3(SGCG):c.236G>A (p.Arg79His) rs375766013 0.00001
NM_000231.3(SGCG):c.267A>G (p.Pro89=) rs149595403 0.00001
NM_000231.3(SGCG):c.326A>G (p.Gln109Arg) rs201514102 0.00001
NM_000231.3(SGCG):c.34G>A (p.Gly12Ser) rs761027747 0.00001
NM_000231.3(SGCG):c.352T>C (p.Ser118Pro) rs766126721 0.00001
NM_000231.3(SGCG):c.501A>T (p.Val167=) rs560640452 0.00001
NM_000231.3(SGCG):c.578+8T>C rs1359141230 0.00001
NM_000231.3(SGCG):c.579-2A>G rs754415994 0.00001
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser) rs547818652 0.00001
NM_000231.3(SGCG):c.629A>G (p.His210Arg) rs1045567625 0.00001
NM_000231.3(SGCG):c.752del (p.Thr251fs) rs886042749 0.00001
NM_000231.3(SGCG):c.77T>C (p.Ile26Thr) rs886043151 0.00001
NM_000231.3(SGCG):c.7C>T (p.Arg3Cys) rs140310896 0.00001
NM_000231.3(SGCG):c.833G>A (p.Gly278Asp) rs748255972 0.00001
GRCh37/hg19 13q12.12(chr13:23760371-23766935)x1
NM_000231.3(SGCG):c.*136T>A rs3751372
NM_000231.3(SGCG):c.*2C>T
NM_000231.3(SGCG):c.1-279A>T rs113027010
NM_000231.3(SGCG):c.117T>A (p.Phe39Leu) rs1877867873
NM_000231.3(SGCG):c.118G>C (p.Val40Leu) rs764468720
NM_000231.3(SGCG):c.150T>A (p.Asn50Lys) rs2137501514
NM_000231.3(SGCG):c.158T>C (p.Leu53Pro) rs781760379
NM_000231.3(SGCG):c.161C>A (p.Thr54Lys) rs886043940
NM_000231.3(SGCG):c.161C>G (p.Thr54Arg) rs886043940
NM_000231.3(SGCG):c.181A>T (p.Met61Leu) rs886044348
NM_000231.3(SGCG):c.195+4_195+7del rs797045106
NM_000231.3(SGCG):c.196-125_196-124insTTCA rs72016136
NM_000231.3(SGCG):c.196-125_196-124insTTTA rs58174484
NM_000231.3(SGCG):c.196-283dup rs199761571
NM_000231.3(SGCG):c.196-300C>G rs71429830
NM_000231.3(SGCG):c.196-6dup rs568365779
NM_000231.3(SGCG):c.230dup (p.Leu78fs) rs1432706111
NM_000231.3(SGCG):c.233T>C (p.Leu78Pro) rs886044067
NM_000231.3(SGCG):c.250T>A (p.Ser84Thr) rs1566011041
NM_000231.3(SGCG):c.275C>A (p.Ala92Asp) rs886044395
NM_000231.3(SGCG):c.298-248del rs79337752
NM_000231.3(SGCG):c.385+147C>A rs113882306
NM_000231.3(SGCG):c.385+2T>G rs200206447
NM_000231.3(SGCG):c.386-2A>G rs886042757
NM_000231.3(SGCG):c.411T>G (p.Asn137Lys) rs886044394
NM_000231.3(SGCG):c.452_458del (p.Leu150_Phe151insTer) rs886042540
NM_000231.3(SGCG):c.505+126_505+139del rs141669762
NM_000231.3(SGCG):c.507G>T (p.Gly169=) rs199905729
NM_000231.3(SGCG):c.517G>A (p.Ala173Thr) rs886042216
NM_000231.3(SGCG):c.525del (p.Phe175fs) rs786204786
NM_000231.3(SGCG):c.526G>C (p.Glu176Gln) rs768134426
NM_000231.3(SGCG):c.530A>G (p.His177Arg) rs1555245325
NM_000231.3(SGCG):c.559G>A (p.Asp187Asn) rs886042075
NM_000231.3(SGCG):c.575T>G (p.Leu192Arg) rs1555245351
NM_000231.3(SGCG):c.579-10C>T rs1232043975
NM_000231.3(SGCG):c.579-21_579-20del rs769893030
NM_000231.3(SGCG):c.579-22G>T rs111358030
NM_000231.3(SGCG):c.579-23del rs67528585
NM_000231.3(SGCG):c.579-23dup rs67528585
NM_000231.3(SGCG):c.579-24T>G rs1536729
NM_000231.3(SGCG):c.579-24_579-23dup rs67528585
NM_000231.3(SGCG):c.579-25_579-23dup rs67528585
NM_000231.3(SGCG):c.579-26T>G rs1536728
NM_000231.3(SGCG):c.599del (p.Ser200fs) rs886043860
NM_000231.3(SGCG):c.615C>G (p.Ala205=) rs142409090
NM_000231.3(SGCG):c.622G>A (p.Gly208Ser) rs1221310096
NM_000231.3(SGCG):c.636A>G (p.Gln212=) rs794727841
NM_000231.3(SGCG):c.637G>T (p.Ala213Ser) rs1883004416
NM_000231.3(SGCG):c.735dup (p.Lys246fs) rs797044783
NM_000231.3(SGCG):c.800_801del (p.Cys267fs) rs780348174
NM_000231.3(SGCG):c.801_802del (p.Pro268fs) rs2137534216
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr) rs104894422
NM_000231.3(SGCG):c.84T>G (p.Ile28Met) rs1031067187

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