ClinVar Miner

List of variants in gene SGCB reported as likely benign for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 185
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HGVS dbSNP gnomAD frequency
NM_000232.5(SGCB):c.92G>T (p.Ser31Ile) rs115928999 0.00262
NM_000232.5(SGCB):c.768C>T (p.Ile256=) rs149121189 0.00039
NM_000232.5(SGCB):c.495C>T (p.Asp165=) rs142801720 0.00025
NM_000232.5(SGCB):c.430-15C>A rs372157108 0.00013
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys) rs200761715 0.00012
NM_000232.5(SGCB):c.105G>A (p.Glu35=) rs1214745536 0.00006
NM_000232.5(SGCB):c.519G>A (p.Pro173=) rs755701680 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.429+24G>T rs367761233 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.744G>A (p.Glu248=) rs778608103 0.00004
NM_000232.5(SGCB):c.789C>T (p.Val263=) rs371225165 0.00004
NM_000232.5(SGCB):c.795C>G (p.Thr265=) rs1490370240 0.00004
NM_000232.5(SGCB):c.939C>T (p.Pro313=) rs375438506 0.00004
NM_000232.5(SGCB):c.429+13A>G rs759134929 0.00003
NM_000232.5(SGCB):c.882G>A (p.Thr294=) rs572922347 0.00003
NM_000232.5(SGCB):c.327A>G (p.Arg109=) rs767994334 0.00002
NM_000232.5(SGCB):c.498C>T (p.Ile166=) rs748602445 0.00002
NM_000232.5(SGCB):c.558T>G (p.Thr186=) rs200167048 0.00002
NM_000232.5(SGCB):c.933C>T (p.Asp311=) rs780557395 0.00002
NM_000232.5(SGCB):c.129A>T (p.Gly43=) rs1281862962 0.00001
NM_000232.5(SGCB):c.138G>A (p.Pro46=) rs532448056 0.00001
NM_000232.5(SGCB):c.204G>T (p.Val68=) rs1560568801 0.00001
NM_000232.5(SGCB):c.264C>T (p.Ala88=) rs763525400 0.00001
NM_000232.5(SGCB):c.318C>A (p.Gly106=) rs1335790481 0.00001
NM_000232.5(SGCB):c.345C>T (p.Asp115=) rs886043228 0.00001
NM_000232.5(SGCB):c.390G>A (p.Arg130=) rs781679527 0.00001
NM_000232.5(SGCB):c.429+19T>C rs1737197744 0.00001
NM_000232.5(SGCB):c.465A>G (p.Val155=) rs774413452 0.00001
NM_000232.5(SGCB):c.540C>T (p.Phe180=) rs1235498684 0.00001
NM_000232.5(SGCB):c.543C>T (p.Ser181=) rs757115090 0.00001
NM_000232.5(SGCB):c.738T>C (p.Asn246=) rs1737145890 0.00001
NM_000232.5(SGCB):c.753+8T>G rs781325990 0.00001
NM_000232.5(SGCB):c.754-13A>G rs1225812140 0.00001
NM_000232.5(SGCB):c.754-16A>G rs768400028 0.00001
NM_000232.5(SGCB):c.754-5A>G rs946854788 0.00001
NM_000232.5(SGCB):c.792C>T (p.Ser264=) rs1476325500 0.00001
NM_000232.5(SGCB):c.798C>T (p.Thr266=) rs182784793 0.00001
NM_000232.5(SGCB):c.834T>C (p.Gly278=) rs772207314 0.00001
NM_000232.5(SGCB):c.852C>T (p.Arg284=) rs1179417557 0.00001
NM_000232.5(SGCB):c.861C>G (p.Leu287=) rs1021753591 0.00001
NM_000232.5(SGCB):c.873T>C (p.Ala291=) rs1240221402 0.00001
NM_000232.5(SGCB):c.879G>A (p.Gly293=) rs1204832968 0.00001
NM_000232.5(SGCB):c.111C>T (p.Asn37=) rs2109376000
NM_000232.5(SGCB):c.120T>C (p.Phe40=)
NM_000232.5(SGCB):c.126T>C (p.Ala42=)
NM_000232.5(SGCB):c.132C>T (p.Tyr44=)
NM_000232.5(SGCB):c.141T>A (p.Ile47=)
NM_000232.5(SGCB):c.150T>C (p.Asp50=) rs765583649
NM_000232.5(SGCB):c.156C>T (p.Leu52=) rs1553940675
NM_000232.5(SGCB):c.159C>T (p.His53=)
NM_000232.5(SGCB):c.169T>C (p.Leu57=) rs962846702
NM_000232.5(SGCB):c.222C>T (p.Ile74=)
NM_000232.5(SGCB):c.243+11G>A
NM_000232.5(SGCB):c.243+11G>C
NM_000232.5(SGCB):c.244-10T>G rs2109372120
NM_000232.5(SGCB):c.244-12G>A
NM_000232.5(SGCB):c.244-14G>A
NM_000232.5(SGCB):c.244-17C>T
NM_000232.5(SGCB):c.244-19G>C
NM_000232.5(SGCB):c.244-9C>G
NM_000232.5(SGCB):c.249A>C (p.Thr83=) rs565862702
NM_000232.5(SGCB):c.249A>G (p.Thr83=) rs565862702
NM_000232.5(SGCB):c.249A>T (p.Thr83=) rs565862702
NM_000232.5(SGCB):c.252T>C (p.Leu84=)
NM_000232.5(SGCB):c.258T>C (p.Ile86=) rs2109372068
NM_000232.5(SGCB):c.264C>G (p.Ala88=)
NM_000232.5(SGCB):c.267G>A (p.Val89=) rs2109372042
NM_000232.5(SGCB):c.273C>T (p.Arg91=) rs776434241
NM_000232.5(SGCB):c.285T>C (p.Asn95=)
NM_000232.5(SGCB):c.288C>T (p.Gly96=) rs2109372010
NM_000232.5(SGCB):c.315T>C (p.Ser105=) rs2109371980
NM_000232.5(SGCB):c.318C>G (p.Gly106=) rs1335790481
NM_000232.5(SGCB):c.318C>T (p.Gly106=)
NM_000232.5(SGCB):c.319C>T (p.Leu107=)
NM_000232.5(SGCB):c.333G>A (p.Lys111=)
NM_000232.5(SGCB):c.339A>G (p.Val113=)
NM_000232.5(SGCB):c.34-13A>G
NM_000232.5(SGCB):c.34-15G>A
NM_000232.5(SGCB):c.34-18G>A
NM_000232.5(SGCB):c.34-20A>G
NM_000232.5(SGCB):c.34-9C>A rs886059439
NM_000232.5(SGCB):c.357C>T (p.Ile119=) rs2109371913
NM_000232.5(SGCB):c.360C>T (p.His120=)
NM_000232.5(SGCB):c.368A>C (p.Tyr123Ser) rs398123263
NM_000232.5(SGCB):c.372A>G (p.Lys124=)
NM_000232.5(SGCB):c.378A>G (p.Thr126=)
NM_000232.5(SGCB):c.403T>C (p.Leu135=) rs1737198985
NM_000232.5(SGCB):c.405G>A (p.Leu135=) rs1655158646
NM_000232.5(SGCB):c.408C>T (p.Val136=) rs2109371822
NM_000232.5(SGCB):c.417C>A (p.Gly139=)
NM_000232.5(SGCB):c.426G>A (p.Gln142=)
NM_000232.5(SGCB):c.429+12C>T
NM_000232.5(SGCB):c.429+15T>G
NM_000232.5(SGCB):c.429+17A>T
NM_000232.5(SGCB):c.429+18C>A rs2109371767
NM_000232.5(SGCB):c.42C>T (p.Ser14=)
NM_000232.5(SGCB):c.430-10T>C rs1553940172
NM_000232.5(SGCB):c.430-13_430-12del
NM_000232.5(SGCB):c.430-13del
NM_000232.5(SGCB):c.430-16A>G
NM_000232.5(SGCB):c.430-17A>G
NM_000232.5(SGCB):c.430-4G>A
NM_000232.5(SGCB):c.430-7T>C rs2109371163
NM_000232.5(SGCB):c.430-8T>C
NM_000232.5(SGCB):c.456G>A (p.Lys152=) rs2109371116
NM_000232.5(SGCB):c.459C>T (p.Leu153=) rs1737178749
NM_000232.5(SGCB):c.45T>C (p.Asn15=)
NM_000232.5(SGCB):c.483T>C (p.Ser161=) rs759737437
NM_000232.5(SGCB):c.519G>C (p.Pro173=)
NM_000232.5(SGCB):c.51T>C (p.Pro17=) rs964563108
NM_000232.5(SGCB):c.520A>C (p.Arg174=)
NM_000232.5(SGCB):c.522G>A (p.Arg174=)
NM_000232.5(SGCB):c.531T>C (p.Asn177=) rs2109371002
NM_000232.5(SGCB):c.538T>C (p.Phe180Leu) rs536728645
NM_000232.5(SGCB):c.546A>G (p.Thr182=)
NM_000232.5(SGCB):c.571T>C (p.Leu191=)
NM_000232.5(SGCB):c.579T>C (p.Ser193=) rs2109370917
NM_000232.5(SGCB):c.582A>C (p.Gly194=)
NM_000232.5(SGCB):c.582A>G (p.Gly194=)
NM_000232.5(SGCB):c.597T>C (p.Asn199=) rs1737174455
NM_000232.5(SGCB):c.612T>C (p.Ser204=)
NM_000232.5(SGCB):c.621+14G>T
NM_000232.5(SGCB):c.621+14del
NM_000232.5(SGCB):c.621+15C>T
NM_000232.5(SGCB):c.621+16T>C
NM_000232.5(SGCB):c.621+18del
NM_000232.5(SGCB):c.621+20T>A
NM_000232.5(SGCB):c.621+9T>C rs1578125562
NM_000232.5(SGCB):c.622-10A>G
NM_000232.5(SGCB):c.622-12T>G
NM_000232.5(SGCB):c.622-16T>C
NM_000232.5(SGCB):c.622-17G>C
NM_000232.5(SGCB):c.622-17G>T
NM_000232.5(SGCB):c.622-20C>A
NM_000232.5(SGCB):c.622-30_622-19del rs2109370138
NM_000232.5(SGCB):c.627C>T (p.Thr209=) rs1578125189
NM_000232.5(SGCB):c.630C>T (p.Ser210=) rs2109370066
NM_000232.5(SGCB):c.636T>C (p.Ala212=)
NM_000232.5(SGCB):c.639C>T (p.Thr213=) rs535718115
NM_000232.5(SGCB):c.63C>T (p.Ser21=)
NM_000232.5(SGCB):c.660T>C (p.Val220=) rs2109370022
NM_000232.5(SGCB):c.675T>C (p.Ile225=)
NM_000232.5(SGCB):c.678G>A (p.Val226=) rs2109370000
NM_000232.5(SGCB):c.681T>A (p.Arg227=)
NM_000232.5(SGCB):c.735T>C (p.Gly245=)
NM_000232.5(SGCB):c.753+19G>A
NM_000232.5(SGCB):c.753+20C>T
NM_000232.5(SGCB):c.753+7A>G rs2109369879
NM_000232.5(SGCB):c.753+7A>T rs2109369879
NM_000232.5(SGCB):c.754-13A>C
NM_000232.5(SGCB):c.754-14T>A
NM_000232.5(SGCB):c.754-7C>T
NM_000232.5(SGCB):c.754-8C>T rs2110209677
NM_000232.5(SGCB):c.75G>A (p.Lys25=) rs2109376069
NM_000232.5(SGCB):c.765C>T (p.Ile255=)
NM_000232.5(SGCB):c.771A>C (p.Leu257=) rs2110209659
NM_000232.5(SGCB):c.777A>T (p.Gly259=) rs758559559
NM_000232.5(SGCB):c.780T>C (p.Ser260=)
NM_000232.5(SGCB):c.783G>C (p.Val261=)
NM_000232.5(SGCB):c.78T>C (p.Ala26=)
NM_000232.5(SGCB):c.798C>A (p.Thr266=) rs182784793
NM_000232.5(SGCB):c.804A>C (p.Leu268=) rs1737023796
NM_000232.5(SGCB):c.813C>T (p.Ser271=) rs2110209615
NM_000232.5(SGCB):c.829T>C (p.Leu277=) rs745818288
NM_000232.5(SGCB):c.858G>A (p.Lys286=) rs2110209580
NM_000232.5(SGCB):c.87A>G (p.Arg29=)
NM_000232.5(SGCB):c.882G>C (p.Thr294=) rs572922347
NM_000232.5(SGCB):c.885C>G (p.Leu295=)
NM_000232.5(SGCB):c.885C>T (p.Leu295=)
NM_000232.5(SGCB):c.88A>C (p.Arg30=) rs2109376040
NM_000232.5(SGCB):c.891G>A (p.Lys297=)
NM_000232.5(SGCB):c.903C>T (p.Thr301=)
NM_000232.5(SGCB):c.906C>T (p.Ser302=) rs1737020220
NM_000232.5(SGCB):c.90G>A (p.Arg30=) rs11541942
NM_000232.5(SGCB):c.921C>T (p.Cys307=)
NM_000232.5(SGCB):c.930A>C (p.Ser310=) rs145108543
NM_000232.5(SGCB):c.930A>G (p.Ser310=) rs145108543
NM_000232.5(SGCB):c.936C>T (p.Asn312=) rs1184617433
NM_000232.5(SGCB):c.945A>G (p.Gly315=) rs2110209464
NM_000232.5(SGCB):c.954T>C (p.His318=)
NM_000232.5(SGCB):c.957A>G (p.Ter319=)
NM_000232.5(SGCB):c.96C>A (p.Val32=) rs2109376016

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