ClinVar Miner

List of variants in gene SGCA reported as likely pathogenic for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 121
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HGVS dbSNP gnomAD frequency
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys) rs138945081 0.00014
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) rs137852623 0.00013
NM_000023.4(SGCA):c.614C>A (p.Pro205His) rs757481230 0.00005
NM_000023.4(SGCA):c.221G>A (p.Arg74Gln) rs779439298 0.00003
NM_000023.4(SGCA):c.293G>A (p.Arg98His) rs137852621 0.00003
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr) rs768814872 0.00003
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro) rs143962150 0.00003
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys) rs758647756 0.00002
NM_000023.4(SGCA):c.197T>A (p.Leu66His) rs767928766 0.00002
NM_000023.4(SGCA):c.242G>A (p.Arg81His) rs747984529 0.00002
NM_000023.4(SGCA):c.157G>A (p.Ala53Thr) rs60407644 0.00001
NM_000023.4(SGCA):c.190G>A (p.Ala64Thr) rs759692350 0.00001
NM_000023.4(SGCA):c.220C>T (p.Arg74Trp) rs757888349 0.00001
NM_000023.4(SGCA):c.313-2A>G rs1057516650 0.00001
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys) rs372210292 0.00001
NM_000023.4(SGCA):c.489del (p.Leu164fs) rs753650776 0.00001
NM_000023.4(SGCA):c.502G>A (p.Gly168Arg) rs199810179 0.00001
NM_000023.4(SGCA):c.580G>T (p.Glu194Ter) rs1057516664 0.00001
NM_000023.4(SGCA):c.585-1G>A rs1342189589 0.00001
NM_000023.4(SGCA):c.661C>T (p.Arg221Cys) rs748936034 0.00001
NM_000023.4(SGCA):c.748-2A>T rs1412537279 0.00001
NM_000023.4(SGCA):c.851G>A (p.Arg284His) rs369359375 0.00001
NM_000023.4(SGCA):c.957-11C>G rs1391089933 0.00001
NM_000023.4(SGCA):c.-1_9del (p.Met1fs) rs1057517107
NM_000023.4(SGCA):c.100C>A (p.Arg34Ser) rs758647756
NM_000023.4(SGCA):c.1025_1026del (p.Glu342fs)
NM_000023.4(SGCA):c.1039_1042dup (p.Ala348fs) rs1598277713
NM_000023.4(SGCA):c.1052del (p.Arg351fs)
NM_000023.4(SGCA):c.1054G>T (p.Glu352Ter) rs763372958
NM_000023.4(SGCA):c.119del (p.Leu40fs)
NM_000023.4(SGCA):c.132_135dup (p.Leu46fs) rs2144493427
NM_000023.4(SGCA):c.157+2T>G
NM_000023.4(SGCA):c.158-2A>G rs1057516300
NM_000023.4(SGCA):c.163_164del (p.Pro55fs)
NM_000023.4(SGCA):c.183dup (p.Tyr62fs) rs886044688
NM_000023.4(SGCA):c.186C>A (p.Tyr62Ter)
NM_000023.4(SGCA):c.186C>G (p.Tyr62Ter) rs766400853
NM_000023.4(SGCA):c.194A>C (p.His65Pro)
NM_000023.4(SGCA):c.1A>G (p.Met1Val)
NM_000023.4(SGCA):c.209C>G (p.Pro70Arg) rs1555568318
NM_000023.4(SGCA):c.20G>A (p.Trp7Ter)
NM_000023.4(SGCA):c.212A>T (p.Asp71Val)
NM_000023.4(SGCA):c.217C>T (p.Pro73Ser)
NM_000023.4(SGCA):c.220del (p.Arg74fs) rs1555568325
NM_000023.4(SGCA):c.221G>C (p.Arg74Pro) rs779439298
NM_000023.4(SGCA):c.226C>T (p.Leu76Phe) rs1555568335
NM_000023.4(SGCA):c.229dup (p.Arg77fs)
NM_000023.4(SGCA):c.236_237insA (p.Gln80fs) rs1567739339
NM_000023.4(SGCA):c.241C>A (p.Arg81Ser) rs398123098
NM_000023.4(SGCA):c.241C>T (p.Arg81Cys) rs398123098
NM_000023.4(SGCA):c.262_269dup (p.Gly91fs)
NM_000023.4(SGCA):c.269A>G (p.Tyr90Cys)
NM_000023.4(SGCA):c.271G>A (p.Gly91Ser)
NM_000023.4(SGCA):c.271G>T (p.Gly91Cys) rs890921874
NM_000023.4(SGCA):c.279_284del (p.Thr94_Pro95del) rs1555568383
NM_000023.4(SGCA):c.290A>G (p.Asp97Gly) rs1555568396
NM_000023.4(SGCA):c.296G>A (p.Gly99Glu)
NM_000023.4(SGCA):c.307A>T (p.Ile103Phe)
NM_000023.4(SGCA):c.308T>C (p.Ile103Thr) rs1161291343
NM_000023.4(SGCA):c.312+1G>A rs2144494642
NM_000023.4(SGCA):c.312+1G>C rs2144494642
NM_000023.4(SGCA):c.313_319del (p.Val105Profs)
NM_000023.4(SGCA):c.329G>T (p.Arg110Leu)
NM_000023.4(SGCA):c.37+1G>A
NM_000023.4(SGCA):c.37+1G>C rs111386656
NM_000023.4(SGCA):c.37+1G>T
NM_000023.4(SGCA):c.37+2C>G rs112500642
NM_000023.4(SGCA):c.37+3A>T
NM_000023.4(SGCA):c.377dup (p.Asp126fs) rs1905070544
NM_000023.4(SGCA):c.386-1G>A
NM_000023.4(SGCA):c.391dup (p.Leu131fs) rs144356125
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter) rs780264754
NM_000023.4(SGCA):c.403C>T (p.Gln135Ter) rs886043221
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln) rs372210292
NM_000023.4(SGCA):c.464del (p.Ser155fs) rs1555568775
NM_000023.4(SGCA):c.472C>T (p.Leu158Phe) rs2144496721
NM_000023.4(SGCA):c.480_481del (p.Leu161fs) rs1057517142
NM_000023.4(SGCA):c.488_489delinsT (p.Gly163fs)
NM_000023.4(SGCA):c.488dup (p.Leu164fs) rs763986788
NM_000023.4(SGCA):c.511C>T (p.Gln171Ter) rs1057516242
NM_000023.4(SGCA):c.558_559del (p.Leu187fs)
NM_000023.4(SGCA):c.559del (p.Leu187fs) rs1057516888
NM_000023.4(SGCA):c.582dup (p.Gly195fs)
NM_000023.4(SGCA):c.584+1G>A rs2144497138
NM_000023.4(SGCA):c.584+1del rs1555568876
NM_000023.4(SGCA):c.584+5G>A
NM_000023.4(SGCA):c.585-2A>T rs1555568965
NM_000023.4(SGCA):c.586G>A (p.Val196Ile) rs752695991
NM_000023.4(SGCA):c.596del (p.Lys199fs)
NM_000023.4(SGCA):c.601G>A (p.Gly201Ser) rs2144498121
NM_000023.4(SGCA):c.602G>A (p.Gly201Asp) rs2144498132
NM_000023.4(SGCA):c.614C>T (p.Pro205Leu) rs757481230
NM_000023.4(SGCA):c.61_62insG (p.Thr21fs) rs2144493097
NM_000023.4(SGCA):c.644C>T (p.Ser215Phe) rs750844090
NM_000023.4(SGCA):c.699C>G (p.Tyr233Ter)
NM_000023.4(SGCA):c.701del (p.Asp234fs)
NM_000023.4(SGCA):c.71del (p.Gln24fs)
NM_000023.4(SGCA):c.724G>T (p.Val242Phe) rs200166783
NM_000023.4(SGCA):c.725T>C (p.Val242Ala)
NM_000023.4(SGCA):c.747+1G>A rs886043392
NM_000023.4(SGCA):c.747G>T (p.Leu249=) rs2144498569
NM_000023.4(SGCA):c.754_755del (p.Lys252fs) rs1057517377
NM_000023.4(SGCA):c.755del (p.Lys252fs) rs1057516548
NM_000023.4(SGCA):c.762del (p.Pro255fs)
NM_000023.4(SGCA):c.794del (p.Gly265fs)
NM_000023.4(SGCA):c.801dup (p.Ile268fs) rs1905256830
NM_000023.4(SGCA):c.846_847delinsT (p.Asp283fs) rs1057516729
NM_000023.4(SGCA):c.84_90del (p.His29fs)
NM_000023.4(SGCA):c.850C>G (p.Arg284Gly) rs137852623
NM_000023.4(SGCA):c.85dup (p.His29fs)
NM_000023.4(SGCA):c.86A>T (p.His29Leu) rs1387802849
NM_000023.4(SGCA):c.88C>T (p.Pro30Ser) rs1327595249
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro) rs903823830
NM_000023.4(SGCA):c.949G>T (p.Glu317Ter) rs1555569339
NM_000023.4(SGCA):c.956+1G>A
NM_000023.4(SGCA):c.956+2_956+19del rs1555569342
NM_000023.4(SGCA):c.957-1G>T rs2144502043
NM_000023.4(SGCA):c.960_961insTC (p.Lys321fs)
NM_000023.4(SGCA):c.981_982dup (p.Asp328fs) rs796065318
NM_001135697.3(SGCA):c.584+521del rs1220674950

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