ClinVar Miner

List of variants in gene CASQ2 reported as likely benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 240
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu) rs146664754 0.00055
NM_001232.4(CASQ2):c.928G>A (p.Asp310Asn) rs141314684 0.00039
NM_001232.4(CASQ2):c.874G>T (p.Ala292Ser) rs200643387 0.00033
NM_001232.4(CASQ2):c.320-18C>T rs376871374 0.00032
NM_001232.4(CASQ2):c.861C>A (p.Ile287=) rs143718767 0.00028
NM_001232.4(CASQ2):c.607-15T>C rs138298959 0.00021
NM_001232.4(CASQ2):c.1011A>T (p.Thr337=) rs137999497 0.00019
NM_001232.4(CASQ2):c.177G>A (p.Pro59=) rs371260149 0.00016
NM_001232.4(CASQ2):c.533-6C>T rs545407254 0.00013
NM_001232.4(CASQ2):c.540G>A (p.Lys180=) rs72554057 0.00011
NM_001232.4(CASQ2):c.855G>C (p.Leu285=) rs148562107 0.00008
NM_001232.4(CASQ2):c.532+17C>A rs768587375 0.00007
NM_001232.4(CASQ2):c.270C>A (p.Gly90=) rs72554056 0.00006
NM_001232.4(CASQ2):c.897C>T (p.Pro299=) rs752053912 0.00005
NM_001232.4(CASQ2):c.927C>T (p.Asp309=) rs749266321 0.00005
NM_001232.4(CASQ2):c.606+12T>C rs763932609 0.00004
NM_001232.4(CASQ2):c.738-16_738-15insC rs747358070 0.00004
NM_001232.4(CASQ2):c.924G>A (p.Pro308=) rs761798969 0.00004
NM_001232.4(CASQ2):c.1188T>C (p.Asp396=) rs751885773 0.00003
NM_001232.4(CASQ2):c.421-7A>T rs776008006 0.00003
NM_001232.4(CASQ2):c.627G>A (p.Leu209=) rs1291884749 0.00003
NM_001232.4(CASQ2):c.681C>T (p.Ile227=) rs769189583 0.00003
NM_001232.4(CASQ2):c.1074G>A (p.Leu358=) rs753872950 0.00002
NM_001232.4(CASQ2):c.114C>T (p.Ser38=) rs571353035 0.00002
NM_001232.4(CASQ2):c.474C>T (p.Phe158=) rs754879716 0.00002
NM_001232.4(CASQ2):c.607-17A>G rs374227794 0.00002
NM_001232.4(CASQ2):c.762A>G (p.Pro254=) rs753016201 0.00002
NM_001232.4(CASQ2):c.87T>C (p.Asp29=) rs772180952 0.00002
NM_001232.4(CASQ2):c.1015-10C>T rs760797081 0.00001
NM_001232.4(CASQ2):c.1050C>T (p.Asp350=) rs758060229 0.00001
NM_001232.4(CASQ2):c.111T>C (p.Leu37=) rs1317500264 0.00001
NM_001232.4(CASQ2):c.225C>T (p.Ile75=) rs1373884863 0.00001
NM_001232.4(CASQ2):c.319+18G>A rs757103068 0.00001
NM_001232.4(CASQ2):c.319+20T>C rs751551798 0.00001
NM_001232.4(CASQ2):c.333A>G (p.Glu111=) rs727502910 0.00001
NM_001232.4(CASQ2):c.492C>T (p.Tyr164=) rs886038422 0.00001
NM_001232.4(CASQ2):c.495C>T (p.Ile165=) rs1447782106 0.00001
NM_001232.4(CASQ2):c.501C>G (p.Leu167=) rs146051391 0.00001
NM_001232.4(CASQ2):c.533-12T>G rs774246167 0.00001
NM_001232.4(CASQ2):c.533-15T>C rs370268584 0.00001
NM_001232.4(CASQ2):c.533-20A>G rs760173068 0.00001
NM_001232.4(CASQ2):c.606+7_606+9del rs752653901 0.00001
NM_001232.4(CASQ2):c.645C>T (p.Asp215=) rs1320292050 0.00001
NM_001232.4(CASQ2):c.702A>G (p.Glu234=) rs756693726 0.00001
NM_001232.4(CASQ2):c.711G>T (p.Leu237=) rs777363402 0.00001
NM_001232.4(CASQ2):c.737+19G>C rs761915819 0.00001
NM_001232.4(CASQ2):c.738-19T>C rs759948112 0.00001
NM_001232.4(CASQ2):c.759C>T (p.Arg253=) rs1210277732 0.00001
NM_001232.4(CASQ2):c.784-11T>G rs761150514 0.00001
NM_001232.4(CASQ2):c.784-19T>C rs765442639 0.00001
NM_001232.4(CASQ2):c.846C>T (p.Tyr282=) rs764692110 0.00001
NM_001232.4(CASQ2):c.903G>A (p.Leu301=) rs1350273999 0.00001
NM_001232.4(CASQ2):c.912G>A (p.Leu304=) rs146074006 0.00001
NM_001232.4(CASQ2):c.957G>A (p.Glu319=) rs758803168 0.00001
NM_001232.4(CASQ2):c.1011A>G (p.Thr337=)
NM_001232.4(CASQ2):c.1014+10C>T
NM_001232.4(CASQ2):c.1014+11C>T
NM_001232.4(CASQ2):c.1014+13T>C
NM_001232.4(CASQ2):c.1014+14G>A
NM_001232.4(CASQ2):c.1014+16G>A
NM_001232.4(CASQ2):c.1014+20G>A
NM_001232.4(CASQ2):c.1014+20G>T rs369540921
NM_001232.4(CASQ2):c.1015-16T>C
NM_001232.4(CASQ2):c.1015-20C>A
NM_001232.4(CASQ2):c.1015-6C>T
NM_001232.4(CASQ2):c.1041A>T (p.Pro347=)
NM_001232.4(CASQ2):c.1059A>C (p.Pro353=)
NM_001232.4(CASQ2):c.1059A>T (p.Pro353=) rs754889548
NM_001232.4(CASQ2):c.1072C>T (p.Leu358=)
NM_001232.4(CASQ2):c.1131A>G (p.Glu377=)
NM_001232.4(CASQ2):c.1140T>C (p.Asp380=)
NM_001232.4(CASQ2):c.1146T>C (p.Asp382=)
NM_001232.4(CASQ2):c.114C>A (p.Ser38=) rs571353035
NM_001232.4(CASQ2):c.1167T>C (p.Asp389=) rs1557783672
NM_001232.4(CASQ2):c.1173T>C (p.Asp391=)
NM_001232.4(CASQ2):c.1176C>T (p.Asp392=)
NM_001232.4(CASQ2):c.1191T>C (p.Asp397=)
NM_001232.4(CASQ2):c.1197A>G (p.Glu399=) rs1251308717
NM_001232.4(CASQ2):c.12T>C (p.Thr4=)
NM_001232.4(CASQ2):c.132G>A (p.Gln44=)
NM_001232.4(CASQ2):c.150C>T (p.Asp50=) rs1570867364
NM_001232.4(CASQ2):c.15C>T (p.His5=)
NM_001232.4(CASQ2):c.165C>T (p.Tyr55=)
NM_001232.4(CASQ2):c.174G>A (p.Glu58=)
NM_001232.4(CASQ2):c.177G>T (p.Pro59=) rs371260149
NM_001232.4(CASQ2):c.180G>C (p.Val60=)
NM_001232.4(CASQ2):c.207G>A (p.Gln69=)
NM_001232.4(CASQ2):c.210C>T (p.Phe70=) rs774492523
NM_001232.4(CASQ2):c.231T>C (p.Leu77=) rs2101130383
NM_001232.4(CASQ2):c.234+13A>T
NM_001232.4(CASQ2):c.234+17C>T
NM_001232.4(CASQ2):c.234+18A>G
NM_001232.4(CASQ2):c.234+8A>C
NM_001232.4(CASQ2):c.234+9C>T
NM_001232.4(CASQ2):c.235-10del
NM_001232.4(CASQ2):c.235-15C>T
NM_001232.4(CASQ2):c.235-17del
NM_001232.4(CASQ2):c.235-8T>C rs2101101082
NM_001232.4(CASQ2):c.240G>A (p.Val80=) rs2101101070
NM_001232.4(CASQ2):c.240G>T (p.Val80=)
NM_001232.4(CASQ2):c.249C>T (p.Val83=)
NM_001232.4(CASQ2):c.294A>G (p.Lys98=)
NM_001232.4(CASQ2):c.303G>A (p.Lys101=)
NM_001232.4(CASQ2):c.306T>G (p.Leu102=)
NM_001232.4(CASQ2):c.319+10A>T
NM_001232.4(CASQ2):c.319+11T>C
NM_001232.4(CASQ2):c.319+20T>A rs751551798
NM_001232.4(CASQ2):c.320-10T>C rs553194567
NM_001232.4(CASQ2):c.320-11G>T
NM_001232.4(CASQ2):c.320-15C>G
NM_001232.4(CASQ2):c.320-7C>T
NM_001232.4(CASQ2):c.33T>C (p.Ile11=)
NM_001232.4(CASQ2):c.342G>A (p.Leu114=) rs1399153364
NM_001232.4(CASQ2):c.348T>C (p.Ile116=)
NM_001232.4(CASQ2):c.357T>C (p.Gly119=)
NM_001232.4(CASQ2):c.366A>G (p.Thr122=)
NM_001232.4(CASQ2):c.420+14C>T
NM_001232.4(CASQ2):c.420+16C>T
NM_001232.4(CASQ2):c.420+17A>G
NM_001232.4(CASQ2):c.420+18G>C
NM_001232.4(CASQ2):c.420+20G>A
NM_001232.4(CASQ2):c.420+8_420+9insATAAATGC
NM_001232.4(CASQ2):c.423A>G (p.Leu141=) rs770571012
NM_001232.4(CASQ2):c.426T>C (p.Ile142=)
NM_001232.4(CASQ2):c.432C>T (p.Asp144=)
NM_001232.4(CASQ2):c.435A>G (p.Pro145=) rs1570831633
NM_001232.4(CASQ2):c.438G>A (p.Val146=)
NM_001232.4(CASQ2):c.444C>T (p.Ile148=)
NM_001232.4(CASQ2):c.48T>C (p.Ser16=) rs2101130724
NM_001232.4(CASQ2):c.519T>C (p.Ser173=)
NM_001232.4(CASQ2):c.522G>A (p.Glu174=) rs2101091922
NM_001232.4(CASQ2):c.532+13C>T rs1442512343
NM_001232.4(CASQ2):c.532+14C>A
NM_001232.4(CASQ2):c.532+17C>T
NM_001232.4(CASQ2):c.532+7T>G
NM_001232.4(CASQ2):c.532+8G>T
NM_001232.4(CASQ2):c.532+9T>G rs1280215477
NM_001232.4(CASQ2):c.533-13T>C
NM_001232.4(CASQ2):c.533-15del
NM_001232.4(CASQ2):c.533-19T>C
NM_001232.4(CASQ2):c.533-5C>T
NM_001232.4(CASQ2):c.543T>G (p.Ala181=) rs912740566
NM_001232.4(CASQ2):c.564C>T (p.His188=)
NM_001232.4(CASQ2):c.603A>G (p.Lys201=) rs1557794917
NM_001232.4(CASQ2):c.606+16A>G
NM_001232.4(CASQ2):c.606+18C>T
NM_001232.4(CASQ2):c.606+7A>T rs1060504495
NM_001232.4(CASQ2):c.607-16T>A
NM_001232.4(CASQ2):c.607-17A>C
NM_001232.4(CASQ2):c.607-18T>G
NM_001232.4(CASQ2):c.607-5T>C
NM_001232.4(CASQ2):c.607-6T>C
NM_001232.4(CASQ2):c.607-7G>T
NM_001232.4(CASQ2):c.607-8G>T
NM_001232.4(CASQ2):c.607-9T>C
NM_001232.4(CASQ2):c.625T>C (p.Leu209=) rs2101079232
NM_001232.4(CASQ2):c.630G>A (p.Lys210=)
NM_001232.4(CASQ2):c.636T>C (p.Asn212=)
NM_001232.4(CASQ2):c.657A>G (p.Pro219=)
NM_001232.4(CASQ2):c.669G>A (p.Glu223=)
NM_001232.4(CASQ2):c.66G>A (p.Gly22=)
NM_001232.4(CASQ2):c.675T>A (p.Ile225=)
NM_001232.4(CASQ2):c.684C>T (p.Pro228=)
NM_001232.4(CASQ2):c.693T>C (p.Pro231=)
NM_001232.4(CASQ2):c.711G>A (p.Leu237=) rs777363402
NM_001232.4(CASQ2):c.737+12G>A
NM_001232.4(CASQ2):c.737+13G>A
NM_001232.4(CASQ2):c.737+13G>T
NM_001232.4(CASQ2):c.737+15A>G
NM_001232.4(CASQ2):c.737+16T>C
NM_001232.4(CASQ2):c.737+17G>A rs1196679914
NM_001232.4(CASQ2):c.737+17G>T
NM_001232.4(CASQ2):c.737+8A>T
NM_001232.4(CASQ2):c.737+9G>T
NM_001232.4(CASQ2):c.738-15_738-5del
NM_001232.4(CASQ2):c.738-16T>G
NM_001232.4(CASQ2):c.738-16_738-5del rs56889721
NM_001232.4(CASQ2):c.738-17_738-5del rs56889721
NM_001232.4(CASQ2):c.738-19_738-5del
NM_001232.4(CASQ2):c.738-20T>C
NM_001232.4(CASQ2):c.738-4C>A
NM_001232.4(CASQ2):c.738-6_738-4dup
NM_001232.4(CASQ2):c.738-8T>C
NM_001232.4(CASQ2):c.741C>T (p.Pro247=)
NM_001232.4(CASQ2):c.753C>G (p.Arg251=)
NM_001232.4(CASQ2):c.753C>T (p.Arg251=)
NM_001232.4(CASQ2):c.762A>C (p.Pro254=)
NM_001232.4(CASQ2):c.783+13C>G
NM_001232.4(CASQ2):c.783+17del
NM_001232.4(CASQ2):c.783+19C>G
NM_001232.4(CASQ2):c.784-11T>C
NM_001232.4(CASQ2):c.784-14_784-12dup
NM_001232.4(CASQ2):c.784-15A>G
NM_001232.4(CASQ2):c.784-18del
NM_001232.4(CASQ2):c.784-5T>C rs2101068877
NM_001232.4(CASQ2):c.784-7C>T rs2101068879
NM_001232.4(CASQ2):c.784-9C>G rs2101068882
NM_001232.4(CASQ2):c.825G>A (p.Glu275=)
NM_001232.4(CASQ2):c.828G>A (p.Lys276=)
NM_001232.4(CASQ2):c.838+10C>A
NM_001232.4(CASQ2):c.838+16C>A
NM_001232.4(CASQ2):c.838+18T>A
NM_001232.4(CASQ2):c.838+9C>A
NM_001232.4(CASQ2):c.839-10C>A rs1285000814
NM_001232.4(CASQ2):c.839-19C>G
NM_001232.4(CASQ2):c.839-8T>C
NM_001232.4(CASQ2):c.843C>G (p.Gly281=)
NM_001232.4(CASQ2):c.861C>T (p.Ile287=) rs143718767
NM_001232.4(CASQ2):c.877C>A (p.Arg293=)
NM_001232.4(CASQ2):c.888T>C (p.Thr296=) rs769250369
NM_001232.4(CASQ2):c.891C>T (p.Asp297=)
NM_001232.4(CASQ2):c.894C>T (p.Asn298=)
NM_001232.4(CASQ2):c.900T>C (p.Asp300=)
NM_001232.4(CASQ2):c.901C>T (p.Leu301=)
NM_001232.4(CASQ2):c.909C>T (p.Ile303=)
NM_001232.4(CASQ2):c.918C>T (p.Ile306=)
NM_001232.4(CASQ2):c.921C>T (p.Asp307=) rs773111521
NM_001232.4(CASQ2):c.939+13A>G
NM_001232.4(CASQ2):c.939+19C>A rs370092811
NM_001232.4(CASQ2):c.939+19C>T
NM_001232.4(CASQ2):c.939+20G>A rs1431164488
NM_001232.4(CASQ2):c.939+20G>C
NM_001232.4(CASQ2):c.939+8G>T
NM_001232.4(CASQ2):c.939+9C>T rs2101055914
NM_001232.4(CASQ2):c.940-10G>A
NM_001232.4(CASQ2):c.940-12T>C
NM_001232.4(CASQ2):c.940-12T>G
NM_001232.4(CASQ2):c.940-18A>C
NM_001232.4(CASQ2):c.940-19T>C
NM_001232.4(CASQ2):c.940-7G>T
NM_001232.4(CASQ2):c.942C>G (p.Leu314=)
NM_001232.4(CASQ2):c.942C>T (p.Leu314=)
NM_001232.4(CASQ2):c.960G>A (p.Lys320=)
NM_001232.4(CASQ2):c.966C>T (p.Phe322=)
NM_001232.4(CASQ2):c.972T>C (p.Ile324=)
NM_001232.4(CASQ2):c.97C>A (p.Arg33=)
NM_001232.4(CASQ2):c.987A>G (p.Pro329=)
NM_001232.4(CASQ2):c.987A>T (p.Pro329=)
NM_001232.4(CASQ2):c.996G>A (p.Gly332=)
NM_001232.4(CASQ2):c.999G>A (p.Val333=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.