ClinVar Miner

List of variants in gene SGCB studied for not provided

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Gene type:
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Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_000232.5(SGCB):c.621+170G>A rs225169 0.55940
NM_000232.5(SGCB):c.244-21T>C rs225170 0.43577
NM_000232.5(SGCB):c.*521A>T rs225165 0.43151
NM_000232.5(SGCB):c.429+193A>C rs711350 0.12416
NM_000232.5(SGCB):c.33+314C>T rs73246101 0.04312
NM_000232.5(SGCB):c.244-169A>G rs115428563 0.01245
NM_000232.5(SGCB):c.*1105A>G rs77404139 0.01061
NM_000232.5(SGCB):c.*724C>T rs79282232 0.00971
NM_000232.5(SGCB):c.430-259G>C rs78679373 0.00672
NM_000232.5(SGCB):c.622-118T>C rs114495805 0.00598
NM_000232.5(SGCB):c.*2907T>C rs138349341 0.00486
NM_000232.5(SGCB):c.753+258A>T rs74452364 0.00371
NM_000232.5(SGCB):c.92G>T (p.Ser31Ile) rs115928999 0.00262
NM_000232.5(SGCB):c.243+244G>A rs142445672 0.00171
NM_000232.5(SGCB):c.943G>A (p.Gly315Arg) rs150395645 0.00041
NM_000232.5(SGCB):c.768C>T (p.Ile256=) rs149121189 0.00039
NM_000232.5(SGCB):c.151C>T (p.Arg51Cys) rs144743676 0.00029
NM_000232.5(SGCB):c.496A>G (p.Ile166Val) rs138877636 0.00028
NM_000232.5(SGCB):c.243+6T>A rs146888744 0.00026
NM_000232.5(SGCB):c.495C>T (p.Asp165=) rs142801720 0.00025
NM_000232.5(SGCB):c.794C>T (p.Thr265Ile) rs116214830 0.00025
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) rs150518260 0.00019
NM_000232.5(SGCB):c.392G>A (p.Arg131Gln) rs201439705 0.00013
NM_000232.5(SGCB):c.188A>G (p.Asn63Ser) rs377071680 0.00011
NM_000232.5(SGCB):c.785T>C (p.Met262Thr) rs201923065 0.00010
NM_000232.5(SGCB):c.841G>A (p.Asp281Asn) rs374923265 0.00005
NM_000232.5(SGCB):c.282A>G (p.Pro94=) rs746957769 0.00004
NM_000232.5(SGCB):c.369T>C (p.Tyr123=) rs371706268 0.00004
NM_000232.5(SGCB):c.430-4G>T rs989155710 0.00004
NM_000232.5(SGCB):c.708C>T (p.Gly236=) rs770295146 0.00004
NM_000232.5(SGCB):c.789C>T (p.Val263=) rs371225165 0.00004
NM_000232.5(SGCB):c.833G>A (p.Gly278Asp) rs777817786 0.00004
NM_000232.5(SGCB):c.838G>A (p.Gly280Ser) rs879945095 0.00004
NM_000232.5(SGCB):c.939C>T (p.Pro313=) rs375438506 0.00004
NM_000232.5(SGCB):c.191T>C (p.Leu64Ser) rs747795143 0.00003
NM_000232.5(SGCB):c.667C>T (p.Arg223Cys) rs570232197 0.00003
NM_000232.5(SGCB):c.752C>T (p.Ala251Val) rs146111013 0.00003
NM_000232.5(SGCB):c.851G>A (p.Arg284His) rs754115634 0.00003
NM_000232.5(SGCB):c.251T>C (p.Leu84Pro) rs138367908 0.00002
NM_000232.5(SGCB):c.271C>T (p.Arg91Cys) rs555514820 0.00002
NM_000232.5(SGCB):c.355A>T (p.Ile119Phe) rs762412447 0.00002
NM_000232.5(SGCB):c.419A>G (p.Asn140Ser) rs775409967 0.00002
NM_000232.5(SGCB):c.498C>T (p.Ile166=) rs748602445 0.00002
NM_000232.5(SGCB):c.551A>G (p.Tyr184Cys) rs1365923535 0.00002
NM_000232.5(SGCB):c.668G>A (p.Arg223His) rs754898211 0.00002
NM_000232.5(SGCB):c.129A>T (p.Gly43=) rs1281862962 0.00001
NM_000232.5(SGCB):c.178A>G (p.Arg60Gly) rs1320144493 0.00001
NM_000232.5(SGCB):c.204G>T (p.Val68=) rs1560568801 0.00001
NM_000232.5(SGCB):c.244A>G (p.Ile82Val) rs143106297 0.00001
NM_000232.5(SGCB):c.345C>T (p.Asp115=) rs886043228 0.00001
NM_000232.5(SGCB):c.380T>C (p.Val127Ala) rs886043353 0.00001
NM_000232.5(SGCB):c.429+5G>A rs794727477 0.00001
NM_000232.5(SGCB):c.452C>G (p.Thr151Arg) rs28936383 0.00001
NM_000232.5(SGCB):c.502A>G (p.Met168Val) rs754465904 0.00001
NM_000232.5(SGCB):c.543C>T (p.Ser181=) rs757115090 0.00001
NM_000232.5(SGCB):c.622-7T>G rs745333182 0.00001
NM_000232.5(SGCB):c.67C>T (p.Arg23Cys) rs529566743 0.00001
NM_000232.5(SGCB):c.680G>A (p.Arg227His) rs762079028 0.00001
NM_000232.5(SGCB):c.754-16A>G rs768400028 0.00001
NM_000232.5(SGCB):c.913A>G (p.Met305Val) rs776593068 0.00001
NM_000232.5(SGCB):c.112A>C (p.Ser38Arg) rs1456517729
NM_000232.5(SGCB):c.199_210del (p.Cys67_Ile70del) rs886042890
NM_000232.5(SGCB):c.249A>G (p.Thr83=) rs565862702
NM_000232.5(SGCB):c.272G>T (p.Arg91Leu) rs104893869
NM_000232.5(SGCB):c.325C>T (p.Arg109Ter) rs750773622
NM_000232.5(SGCB):c.33+244G>C rs71595672
NM_000232.5(SGCB):c.34-3T>G rs794727241
NM_000232.5(SGCB):c.346A>G (p.Met116Val) rs752168132
NM_000232.5(SGCB):c.368A>C (p.Tyr123Ser) rs398123263
NM_000232.5(SGCB):c.374G>A (p.Ser125Asn) rs1560567674
NM_000232.5(SGCB):c.391C>T (p.Arg131Ter) rs1013015106
NM_000232.5(SGCB):c.416G>A (p.Gly139Asp) rs1560567653
NM_000232.5(SGCB):c.430-10T>C rs1553940172
NM_000232.5(SGCB):c.430-5dup rs762831481
NM_000232.5(SGCB):c.504_505delinsAG (p.Met168_Gln169delinsIleGlu) rs2109371031
NM_000232.5(SGCB):c.509T>G (p.Phe170Cys) rs886043684
NM_000232.5(SGCB):c.538T>C (p.Phe180Leu) rs536728645
NM_000232.5(SGCB):c.572del (p.Leu191fs) rs886042546
NM_000232.5(SGCB):c.610T>C (p.Ser204Pro) rs886044156
NM_000232.5(SGCB):c.622-1G>C rs2109370093
NM_000232.5(SGCB):c.694G>A (p.Val232Ile)
NM_000232.5(SGCB):c.753+10_753+12del rs138604476
NM_000232.5(SGCB):c.758A>G (p.Asn253Ser) rs886044225
NM_000232.5(SGCB):c.809G>A (p.Ser270Asn)
NM_000232.5(SGCB):c.87_89del (p.Arg30del) rs780654411

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