ClinVar Miner

List of variants in gene CASQ2 reported as benign for not provided

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Gene type:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_001232.4(CASQ2):c.420+6T>C rs9428083 0.71176
NM_001232.4(CASQ2):c.320-176T>C rs7551613 0.71134
NM_001232.4(CASQ2):c.320-250T>C rs7551633 0.71128
NM_001232.4(CASQ2):c.320-298A>G rs7554582 0.70445
NM_001232.4(CASQ2):c.320-77C>T rs7538337 0.70440
NM_001232.4(CASQ2):c.784-89C>T rs2997742 0.58397
NM_001232.4(CASQ2):c.940-193G>A rs6667224 0.57067
NM_001232.4(CASQ2):c.738-109G>A rs4475752 0.51757
NM_001232.4(CASQ2):c.235-149A>G rs9428211 0.43555
NM_001232.4(CASQ2):c.939+278C>G rs3811005 0.39959
NM_001232.4(CASQ2):c.939+23C>T rs3811003 0.39341
NM_001232.4(CASQ2):c.940-283A>G rs6675002 0.37814
NM_001232.4(CASQ2):c.196A>G (p.Thr66Ala) rs4074536 0.34486
NM_001232.4(CASQ2):c.234+111C>G rs4484922 0.32879
NM_001232.4(CASQ2):c.319+144G>A rs10127797 0.26876
NM_001232.4(CASQ2):c.235-101T>C rs10801969 0.26862
NM_001232.4(CASQ2):c.235-118C>T rs10801970 0.26860
NM_001232.4(CASQ2):c.1015-251G>T rs4614259 0.23021
NM_001232.4(CASQ2):c.784-29G>A rs3811001 0.22810
NM_001232.4(CASQ2):c.940-39C>G rs12402684 0.19253
NM_001232.4(CASQ2):c.1015-119G>A rs80057683 0.18183
NM_001232.3(CASQ2):c.-218T>C rs78585518 0.09790
NM_001232.4(CASQ2):c.235-301C>T rs34065642 0.06147
NM_001232.3(CASQ2):c.-587G>A rs79342009 0.05311
NM_001232.4(CASQ2):c.-137T>C rs12069574 0.05139
NM_001232.4(CASQ2):c.234+29G>A rs12067339 0.05117
NM_001232.4(CASQ2):c.420+220T>C rs28730717 0.03173
NM_001232.3(CASQ2):c.-380A>G rs60107062 0.02781
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
NM_001232.4(CASQ2):c.783+280C>T rs74985404 0.02402
NM_001232.4(CASQ2):c.940-60G>T rs28730714 0.02119
NM_001232.4(CASQ2):c.939+132G>T rs115673492 0.02117
NM_001232.4(CASQ2):c.784-55A>G rs28730715 0.01852
NM_001232.4(CASQ2):c.*175T>G rs563342580 0.00009
NC_000001.11:g.115768856CT[1] rs3842501
NM_001232.3(CASQ2):c.-221_-220GT[11] rs72554067
NM_001232.3(CASQ2):c.-221_-220GT[12] rs72554067
NM_001232.3(CASQ2):c.-581T>G rs79216466
NM_001232.4(CASQ2):c.-20A>G rs779306896
NM_001232.4(CASQ2):c.1014+161C>A rs3934652
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del) rs397516641
NM_001232.4(CASQ2):c.234+10789C>T
NM_001232.4(CASQ2):c.737+282G>T rs6661781
NM_001232.4(CASQ2):c.738-12_738-5del rs56889721
NM_001232.4(CASQ2):c.738-27dup rs56889721
NM_001232.4(CASQ2):c.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.784-17T>A rs2997741
NM_001232.4(CASQ2):c.939+256G>C rs3811004
NM_001232.4(CASQ2):c.939+256G>T rs3811004

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