ClinVar Miner

List of variants in gene CASQ2 studied for not specified

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Gene type:
ClinVar version:
Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_001232.4(CASQ2):c.420+6T>C rs9428083 0.71176
NM_001232.4(CASQ2):c.939+23C>T rs3811003 0.39341
NM_001232.4(CASQ2):c.196A>G (p.Thr66Ala) rs4074536 0.34486
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
NM_001232.4(CASQ2):c.-21G>A rs12067472 0.01521
NM_001232.4(CASQ2):c.226G>A (p.Val76Met) rs10801999 0.01289
NM_001232.4(CASQ2):c.198G>A (p.Thr66=) rs74114618 0.00243
NM_001232.4(CASQ2):c.421-14G>A rs139281637 0.00159
NM_001232.4(CASQ2):c.481A>G (p.Ile161Val) rs146333579 0.00076
NM_001232.4(CASQ2):c.730C>T (p.His244Tyr) rs142036299 0.00076
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.1131A>T (p.Glu377Asp) rs148824162 0.00031
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.177G>A (p.Pro59=) rs371260149 0.00016
NM_001232.4(CASQ2):c.338G>A (p.Ser113Asn) rs199750975 0.00014
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.1186G>A (p.Asp396Asn) rs368007942 0.00010
NM_001232.4(CASQ2):c.80C>T (p.Thr27Ile) rs773237428 0.00009
NM_001232.4(CASQ2):c.1015-3C>T rs375320117 0.00008
NM_001232.4(CASQ2):c.758G>A (p.Arg253His) rs199571249 0.00008
NM_001232.4(CASQ2):c.860T>A (p.Ile287Asn) rs368165922 0.00008
NM_001232.4(CASQ2):c.503T>C (p.Ile168Thr) rs148057999 0.00007
NM_001232.4(CASQ2):c.1148A>G (p.Asp383Gly) rs397516640 0.00006
NM_001232.4(CASQ2):c.270C>A (p.Gly90=) rs72554056 0.00006
NM_001232.4(CASQ2):c.173A>T (p.Glu58Val) rs764732977 0.00005
NM_001232.4(CASQ2):c.376G>C (p.Asp126His) rs727502908 0.00004
NM_001232.4(CASQ2):c.-22C>T rs180956898 0.00003
NM_001232.4(CASQ2):c.234+3A>G rs727502909 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.650A>G (p.Tyr217Cys) rs373227317 0.00003
NM_001232.4(CASQ2):c.757C>A (p.Arg253Ser) rs727504510 0.00003
NM_001232.4(CASQ2):c.479G>A (p.Arg160His) rs372283956 0.00002
NM_001232.4(CASQ2):c.1026C>T (p.Val342=) rs774882087 0.00001
NM_001232.4(CASQ2):c.311A>C (p.Lys104Thr) rs781062859 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.678C>T (p.Ala226=) rs1647618680 0.00001
NM_001232.4(CASQ2):c.702A>G (p.Glu234=) rs756693726 0.00001
NM_001232.4(CASQ2):c.737+19G>C rs761915819 0.00001
NM_001232.4(CASQ2):c.738-3C>A rs876657750 0.00001
NM_001232.3(CASQ2):c.[730C>T;731A>G]
NM_001232.4(CASQ2):c.-30T>C rs1057521312
NM_001232.4(CASQ2):c.101T>G (p.Val34Gly) rs1280686043
NM_001232.4(CASQ2):c.1085T>C (p.Ile362Thr) rs1557783735
NM_001232.4(CASQ2):c.1090dup (p.Asp364fs) rs397516639
NM_001232.4(CASQ2):c.1122TGA[2] (p.Asp376del) rs202241842
NM_001232.4(CASQ2):c.1132GAT[5] (p.Asp383del) rs72554069
NM_001232.4(CASQ2):c.1132GAT[7] (p.Asp383dup) rs72554069
NM_001232.4(CASQ2):c.1134T>A (p.Asp378Glu) rs150486780
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del) rs397516641
NM_001232.4(CASQ2):c.1188TGA[2] (p.Asp398del) rs72554070
NM_001232.4(CASQ2):c.1188TGA[4] (p.Asp398dup) rs72554070
NM_001232.4(CASQ2):c.177G>T (p.Pro59=) rs371260149
NM_001232.4(CASQ2):c.19T>C (p.Phe7Leu) rs727502911
NM_001232.4(CASQ2):c.420+17A>T
NM_001232.4(CASQ2):c.421-15C>G rs199939582
NM_001232.4(CASQ2):c.421-15C>T rs199939582
NM_001232.4(CASQ2):c.621A>G (p.Leu207=) rs1057522481
NM_001232.4(CASQ2):c.738-10_738-5del rs56889721
NM_001232.4(CASQ2):c.738-11_738-5del rs56889721
NM_001232.4(CASQ2):c.738-12_738-5del rs56889721
NM_001232.4(CASQ2):c.738-6_738-5del rs56889721
NM_001232.4(CASQ2):c.738-7_738-5del rs56889721
NM_001232.4(CASQ2):c.738-8_738-5del rs56889721
NM_001232.4(CASQ2):c.738-9_738-5del rs56889721
NM_001232.4(CASQ2):c.781T>C (p.Trp261Arg) rs397516642
NM_001232.4(CASQ2):c.783+3A>T rs876657751
NM_001232.4(CASQ2):c.784-17T>A rs2997741
NM_001232.4(CASQ2):c.784-17T>G rs2997741
NM_001232.4(CASQ2):c.923C>A (p.Pro308Gln) rs139228801
NM_001232.4(CASQ2):c.992T>C (p.Ile331Thr) rs2101053760

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