ClinVar Miner

List of variants in gene SDHC studied for Paragangliomas 3

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Gene type:
ClinVar version:
Total variants: 182
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HGVS dbSNP gnomAD frequency
NM_003001.5(SDHC):c.-32T>C rs115782155 0.01342
NM_003001.5(SDHC):c.*84G>C rs201210474 0.00677
NM_003001.5(SDHC):c.354T>C (p.Phe118=) rs61733156 0.00454
NM_003001.5(SDHC):c.20+22G>C rs182261879 0.00031
NM_003001.5(SDHC):c.405+23C>T rs373731336 0.00026
NM_003001.5(SDHC):c.120G>A (p.Arg40=) rs36097930 0.00024
NM_003001.5(SDHC):c.78-19C>T rs144770080 0.00023
NM_003001.5(SDHC):c.342C>T (p.His114=) rs143730978 0.00019
NM_003001.5(SDHC):c.490A>T (p.Met164Leu) rs200375156 0.00019
NM_003001.5(SDHC):c.179+10G>A rs532455044 0.00006
NM_003001.5(SDHC):c.119G>A (p.Arg40Gln) rs772450693 0.00005
NM_003001.5(SDHC):c.450G>A (p.Gln150=) rs749159544 0.00005
NM_003001.5(SDHC):c.198G>A (p.Ala66=) rs763628960 0.00004
NM_003001.5(SDHC):c.20+8C>T rs773661299 0.00004
NM_003001.5(SDHC):c.282G>A (p.Gly94=) rs536197277 0.00004
NM_003001.5(SDHC):c.162C>A (p.Pro54=) rs374450282 0.00003
NM_003001.5(SDHC):c.242-15T>C rs961762320 0.00003
NM_003001.5(SDHC):c.377A>G (p.Tyr126Cys) rs898854295 0.00003
NM_003001.5(SDHC):c.444A>C (p.Leu148=) rs377230417 0.00003
NM_003001.5(SDHC):c.99G>A (p.Thr33=) rs145535502 0.00003
NM_003001.5(SDHC):c.99G>T (p.Thr33=) rs145535502 0.00003
NM_003001.5(SDHC):c.*20T>G rs587778662 0.00002
NM_003001.5(SDHC):c.11T>C (p.Leu4Pro) rs774299337 0.00002
NM_003001.5(SDHC):c.197C>T (p.Ala66Val) rs760572684 0.00002
NM_003001.5(SDHC):c.21-9A>G rs2102295295 0.00002
NM_003001.5(SDHC):c.264G>A (p.Ser88=) rs1277488324 0.00002
NM_003001.5(SDHC):c.43C>T (p.Arg15Ter) rs201286421 0.00002
NM_003001.5(SDHC):c.*3A>G rs763357013 0.00001
NM_003001.5(SDHC):c.148C>T (p.Arg50Cys) rs587778661 0.00001
NM_003001.5(SDHC):c.1A>G (p.Met1Val) rs755235380 0.00001
NM_003001.5(SDHC):c.20+3G>A rs377566366 0.00001
NM_003001.5(SDHC):c.22C>A (p.His8Asn) rs746666691 0.00001
NM_003001.5(SDHC):c.241+7A>G rs878854586 0.00001
NM_003001.5(SDHC):c.294T>G (p.Ser98=) rs376292127 0.00001
NM_003001.5(SDHC):c.309G>A (p.Val103=) rs768273090 0.00001
NM_003001.5(SDHC):c.312G>A (p.Lys104=) rs1395923291 0.00001
NM_003001.5(SDHC):c.339C>T (p.Ile113=) rs1047677628 0.00001
NM_003001.5(SDHC):c.372C>T (p.Leu124=) rs766007157 0.00001
NM_003001.5(SDHC):c.380A>G (p.His127Arg) rs786203457 0.00001
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter) rs764575966 0.00001
NM_003001.5(SDHC):c.405+1G>T rs587776653 0.00001
NM_003001.5(SDHC):c.406-4A>G rs755056779 0.00001
NM_003001.5(SDHC):c.420A>G (p.Gly140=) rs794727791 0.00001
NM_003001.5(SDHC):c.42C>T (p.Leu14=) rs1331533952 0.00001
NM_003001.5(SDHC):c.436C>A (p.Pro146Thr) rs541660851 0.00001
NM_003001.5(SDHC):c.456A>C (p.Gly152=) rs886251473 0.00001
NM_003001.5(SDHC):c.489T>C (p.Ser163=) rs559747670 0.00001
NM_003001.5(SDHC):c.48C>G (p.Ala16=) rs1553261765 0.00001
NM_003001.5(SDHC):c.64C>T (p.Leu22Phe) rs1473438869 0.00001
NM_003001.5(SDHC):c.82G>T (p.Val28Phe) rs754818119 0.00001
NM_003001.5(SDHC):c.9G>A (p.Ala3=) rs749265569 0.00001
NC_000001.10:g.(?_161310384)_(161310445_?)dup
NC_000001.11:g.(?_161356677)_(161356840_?)del
NM_003001.5(SDHC):c.*10G>C
NM_003001.5(SDHC):c.*1A>G
NM_003001.5(SDHC):c.*2G>C
NM_003001.5(SDHC):c.*5AGG[1]
NM_003001.5(SDHC):c.107_108del (p.Glu36fs) rs2526364384
NM_003001.5(SDHC):c.10C>T (p.Leu4=) rs770796603
NM_003001.5(SDHC):c.117G>A (p.Glu39=)
NM_003001.5(SDHC):c.118del (p.Arg40fs) rs2526364684
NM_003001.5(SDHC):c.118dup (p.Arg40fs) rs2526364668
NM_003001.5(SDHC):c.120G>C (p.Arg40=) rs36097930
NM_003001.5(SDHC):c.12G>T (p.Leu4=) rs745443094
NM_003001.5(SDHC):c.132G>A (p.Lys44=) rs2102307834
NM_003001.5(SDHC):c.135T>C (p.Asn45=) rs2102307847
NM_003001.5(SDHC):c.147C>T (p.Asn49=)
NM_003001.5(SDHC):c.154C>T (p.Leu52=) rs2526365269
NM_003001.5(SDHC):c.156G>C (p.Leu52=) rs987490127
NM_003001.5(SDHC):c.165C>T (p.His55=) rs786202080
NM_003001.5(SDHC):c.16C>T (p.Leu6=)
NM_003001.5(SDHC):c.171T>A (p.Thr57=) rs2526365513
NM_003001.5(SDHC):c.177C>A (p.Tyr59Ter) rs1571851717
NM_003001.5(SDHC):c.177C>T (p.Tyr59=) rs1571851717
NM_003001.5(SDHC):c.179+1G>C rs1057517818
NM_003001.5(SDHC):c.179+9G>A rs1558167376
NM_003001.5(SDHC):c.180-13T>C rs2526444246
NM_003001.5(SDHC):c.180-16G>T
NM_003001.5(SDHC):c.180-19T>C rs2526444153
NM_003001.5(SDHC):c.180-2A>G rs1363265634
NM_003001.5(SDHC):c.180-9T>C rs2102335976
NM_003001.5(SDHC):c.189T>C (p.Leu63=)
NM_003001.5(SDHC):c.1A>T (p.Met1Leu) rs755235380
NM_003001.5(SDHC):c.20+10G>A rs1060504224
NM_003001.5(SDHC):c.20+10G>C
NM_003001.5(SDHC):c.20+5C>G
NM_003001.5(SDHC):c.20+7T>G rs1553260599
NM_003001.5(SDHC):c.20+8C>A rs773661299
NM_003001.5(SDHC):c.20+9A>G rs1271741954
NM_003001.5(SDHC):c.204dup (p.Ile69fs) rs1671685956
NM_003001.5(SDHC):c.21-10T>C rs771805280
NM_003001.5(SDHC):c.21-10dup rs759481419
NM_003001.5(SDHC):c.21-14C>T rs1450437203
NM_003001.5(SDHC):c.21-15T>C
NM_003001.5(SDHC):c.21-17A>C
NM_003001.5(SDHC):c.21-17A>G
NM_003001.5(SDHC):c.21-18G>T
NM_003001.5(SDHC):c.21-2A>G rs1131691062
NM_003001.5(SDHC):c.21-43_21-20dup
NM_003001.5(SDHC):c.21-5T>C
NM_003001.5(SDHC):c.21-6T>C rs779721144
NM_003001.5(SDHC):c.21-8T>C rs1571843525
NM_003001.5(SDHC):c.216T>C (p.Arg72=)
NM_003001.5(SDHC):c.219C>T (p.Gly73=) rs752049668
NM_003001.5(SDHC):c.226dup (p.Ile76fs)
NM_003001.5(SDHC):c.241+9_241+10del rs1571869349
NM_003001.5(SDHC):c.242-10_242-9dup
NM_003001.5(SDHC):c.242-13G>C rs1553265778
NM_003001.5(SDHC):c.242-20C>T
NM_003001.5(SDHC):c.242-2_242-1insT rs2526535535
NM_003001.5(SDHC):c.242-6C>T rs1571889931
NM_003001.5(SDHC):c.242-8C>T
NM_003001.5(SDHC):c.243G>T (p.Gly81=) rs1314593051
NM_003001.5(SDHC):c.24C>T (p.His8=) rs761381438
NM_003001.5(SDHC):c.250_251del (p.Leu84fs) rs2102370242
NM_003001.5(SDHC):c.267C>T (p.Ala89=) rs2102370462
NM_003001.5(SDHC):c.270G>A (p.Leu90=) rs1553265790
NM_003001.5(SDHC):c.279T>G (p.Pro93=) rs2102370578
NM_003001.5(SDHC):c.282G>T (p.Gly94=) rs536197277
NM_003001.5(SDHC):c.294T>C (p.Ser98=) rs376292127
NM_003001.5(SDHC):c.297T>C (p.Tyr99=) rs2102370693
NM_003001.5(SDHC):c.2T>G (p.Met1Arg) rs1670517782
NM_003001.5(SDHC):c.30T>C (p.Gly10=) rs1170595036
NM_003001.5(SDHC):c.315C>T (p.Ser105=) rs2102370802
NM_003001.5(SDHC):c.316C>T (p.Leu106=)
NM_003001.5(SDHC):c.318G>A (p.Leu106=) rs1166833684
NM_003001.5(SDHC):c.322C>T (p.Leu108=) rs2102370841
NM_003001.5(SDHC):c.324G>A (p.Leu108=)
NM_003001.5(SDHC):c.333A>G (p.Ala111=) rs950221552
NM_003001.5(SDHC):c.334C>T (p.Leu112=) rs1329297940
NM_003001.5(SDHC):c.348T>G (p.Ala116=)
NM_003001.5(SDHC):c.351G>A (p.Lys117=) rs1571890344
NM_003001.5(SDHC):c.357A>G (p.Ala119=) rs2102371098
NM_003001.5(SDHC):c.363C>T (p.Val121=) rs1273832397
NM_003001.5(SDHC):c.36T>C (p.His12=) rs2526332503
NM_003001.5(SDHC):c.371_372del (p.Leu124fs) rs2526537702
NM_003001.5(SDHC):c.372C>A (p.Leu124=) rs766007157
NM_003001.5(SDHC):c.376_391del (p.Tyr126fs) rs1553265817
NM_003001.5(SDHC):c.379C>G (p.His127Asp) rs1485675090
NM_003001.5(SDHC):c.384C>T (p.Thr128=) rs1553265821
NM_003001.5(SDHC):c.386G>A (p.Trp129Ter) rs1672294906
NM_003001.5(SDHC):c.390T>C (p.Asn130=) rs2102371399
NM_003001.5(SDHC):c.3G>A (p.Met1Ile) rs587776652
NM_003001.5(SDHC):c.402C>T (p.His134=) rs754213041
NM_003001.5(SDHC):c.405+1G>C rs587776653
NM_003001.5(SDHC):c.406-10T>C rs1060504225
NM_003001.5(SDHC):c.406-13G>A rs758615918
NM_003001.5(SDHC):c.406-13G>C
NM_003001.5(SDHC):c.406-14T>C
NM_003001.5(SDHC):c.406-1G>A rs2102384864
NM_003001.5(SDHC):c.406-8G>T rs747093483
NM_003001.5(SDHC):c.415C>T (p.Leu139=)
NM_003001.5(SDHC):c.422_423insT (p.Lys141fs) rs1672548902
NM_003001.5(SDHC):c.423A>G (p.Lys141=) rs2102385065
NM_003001.5(SDHC):c.429G>C (p.Leu143=)
NM_003001.5(SDHC):c.441G>A (p.Gln147=) rs2102385288
NM_003001.5(SDHC):c.444A>G (p.Leu148=) rs377230417
NM_003001.5(SDHC):c.459G>A (p.Val153=) rs770599902
NM_003001.5(SDHC):c.468G>A (p.Leu156=)
NM_003001.5(SDHC):c.471T>C (p.Val157=)
NM_003001.5(SDHC):c.473T>C (p.Leu158Pro) rs2102385649
NM_003001.5(SDHC):c.477T>A (p.Thr159=) rs759055559
NM_003001.5(SDHC):c.477T>C (p.Thr159=) rs759055559
NM_003001.5(SDHC):c.496C>T (p.Leu166=) rs2102385898
NM_003001.5(SDHC):c.49del (p.His17fs) rs758528026
NM_003001.5(SDHC):c.504C>T (p.Ala168=) rs1571899229
NM_003001.5(SDHC):c.51C>T (p.His17=)
NM_003001.5(SDHC):c.60T>C (p.Pro20=)
NM_003001.5(SDHC):c.66C>G (p.Leu22=) rs778965036
NM_003001.5(SDHC):c.66C>T (p.Leu22=) rs778965036
NM_003001.5(SDHC):c.6T>C (p.Ala2=) rs775353334
NM_003001.5(SDHC):c.6T>G (p.Ala2=) rs775353334
NM_003001.5(SDHC):c.77+1G>C rs1558164647
NM_003001.5(SDHC):c.77+8T>G
NM_003001.5(SDHC):c.77+9C>T rs2102295766
NM_003001.5(SDHC):c.78-16T>C rs2102307516
NM_003001.5(SDHC):c.78-17G>A rs2526363560
NM_003001.5(SDHC):c.78-8T>C
NM_003001.5(SDHC):c.81T>C (p.Ala27=) rs876659297
NM_003001.5(SDHC):c.96C>T (p.Thr32=) rs1671145722
NM_003001.5(SDHC):c.97_98dup (p.Ala34fs) rs2526364101
NM_003001.5(SDHC):c.9G>T (p.Ala3=) rs749265569

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