ClinVar Miner

List of variants reported as likely benign by Genetics and Genomics Program, Sidra Medicine

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ClinVar version:
Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser) rs55980498 0.00372
NM_133379.5(TTN):c.16160G>A (p.Cys5387Tyr) rs72648913 0.00258
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273 0.00253
NM_001267550.2(TTN):c.9077A>T (p.Asn3026Ile) rs11900987 0.00205
NM_001267550.2(TTN):c.35264A>C (p.Lys11755Thr) rs189966800 0.00172
NM_001267550.2(TTN):c.68458G>C (p.Ala22820Pro) rs72646880 0.00151
NM_004006.3(DMD):c.7571G>A (p.Arg2524His) rs151244052 0.00109
NM_001267550.2(TTN):c.79612A>G (p.Thr26538Ala) rs150682764 0.00100
NM_181486.4(TBX5):c.836G>A (p.Arg279Gln) rs115178276 0.00087
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr) rs72648227 0.00073
NM_022114.4(PRDM16):c.3154G>A (p.Ala1052Thr) rs113879347 0.00072
NM_133379.5(TTN):c.16613G>A (p.Arg5538His) rs145932311 0.00071
NM_033118.4(MYLK2):c.173C>A (p.Ala58Asp) rs138130914 0.00070
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met) rs72648237 0.00066
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr) rs72629793 0.00063
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys) rs200352299 0.00035
NM_001267550.2(TTN):c.88733G>A (p.Arg29578His) rs374147064 0.00030
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu) rs185962498 0.00028
NM_001267550.2(TTN):c.65729T>C (p.Ile21910Thr) rs146941600 0.00028
NM_001267550.2(TTN):c.65534C>T (p.Pro21845Leu) rs201662134 0.00026
NM_000232.5(SGCB):c.794C>T (p.Thr265Ile) rs116214830 0.00025
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101 0.00024
NM_002230.4(JUP):c.546G>A (p.Ser182=) rs202038498 0.00023
NM_000337.6(SGCD):c.848A>G (p.Gln283Arg) rs397516338 0.00019
NM_001267550.2(TTN):c.38975A>T (p.Lys12992Ile) rs746094582 0.00019
NM_001267550.2(TTN):c.9338G>A (p.Arg3113His) rs141258018 0.00019
NM_004415.4(DSP):c.8415C>T (p.Ala2805=) rs377148997 0.00019
NM_001267550.2(TTN):c.54148C>T (p.Arg18050Cys) rs55734111 0.00017
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu) rs72629783 0.00016
NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr) rs201302282 0.00016
NM_004415.4(DSP):c.1949A>G (p.Asn650Ser) rs145650440 0.00016
NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser) rs186234393 0.00015
NM_001267550.2(TTN):c.59402G>A (p.Gly19801Asp) rs202206216 0.00012
NM_001077653.2(TBX20):c.10A>T (p.Thr4Ser) rs147393830 0.00006
NM_001267550.2(TTN):c.107696T>C (p.Ile35899Thr) rs372276487 0.00006
NM_001267550.2(TTN):c.75034C>T (p.Arg25012Trp) rs368914555 0.00006
NM_001005242.3(PKP2):c.1372A>G (p.Ile458Val) rs199571473 0.00005
NM_004006.3(DMD):c.10228G>A (p.Val3410Ile) rs751030250 0.00005
NM_000256.3(MYBPC3):c.842G>A (p.Arg281Gln) rs11570060 0.00004
NM_001267550.2(TTN):c.56686G>A (p.Val18896Met) rs370629962 0.00004
NM_004415.4(DSP):c.3650C>T (p.Thr1217Met) rs535202724 0.00003
NM_001267550.2(TTN):c.26765G>A (p.Arg8922Gln) rs397517520 0.00002
NM_001267550.2(TTN):c.62995T>G (p.Phe20999Val) rs568886353 0.00002
NM_001267550.2(TTN):c.80858C>T (p.Thr26953Met) rs377506142 0.00002
NM_000256.3(MYBPC3):c.3058A>G (p.Ser1020Gly) rs2095879641 0.00001
NM_001105206.3(LAMA4):c.188C>T (p.Ala63Val) rs370868386 0.00001
NM_001134363.3(RBM20):c.3076G>A (p.Glu1026Lys) rs866975469 0.00001
NM_001267550.2(TTN):c.103540G>A (p.Val34514Ile) rs769311670 0.00001
NM_001267550.2(TTN):c.104347C>T (p.Leu34783Phe) rs539735520 0.00001
NM_001267550.2(TTN):c.41282G>A (p.Arg13761His) rs781139091 0.00001
NM_001267550.2(TTN):c.59875C>T (p.Arg19959Cys) rs564432498 0.00001
NM_001267550.2(TTN):c.59920C>A (p.Pro19974Thr) rs778877970 0.00001
NM_001267550.2(TTN):c.6915G>T (p.Glu2305Asp) rs778211562 0.00001
NM_001267550.2(TTN):c.71881G>A (p.Val23961Ile) rs397517690 0.00001
NM_001267550.2(TTN):c.74527A>G (p.Asn24843Asp) rs373527654 0.00001
NM_001267550.2(TTN):c.81809T>C (p.Ile27270Thr) rs368527797 0.00001
NM_004006.3(DMD):c.*39A>T rs371730838 0.00001
NM_032578.4(MYPN):c.3167C>T (p.Ser1056Phe) rs373101027 0.00001
NM_000232.5(SGCB):c.368A>C (p.Tyr123Ser) rs398123263
NM_001267550.2(TTN):c.25616G>T (p.Cys8539Phe) rs550882549
NM_001267550.2(TTN):c.37502C>T (p.Pro12501Leu) rs1236045684
NM_001267550.2(TTN):c.39020A>C (p.Lys13007Thr) rs532069408
NM_001267550.2(TTN):c.40133C>T (p.Pro13378Leu) rs2062187429
NM_001267550.2(TTN):c.53156T>C (p.Val17719Ala) rs564121832
NM_001267550.2(TTN):c.63571C>A (p.Pro21191Thr) rs2049345864
NM_001267550.2(TTN):c.67571G>A (p.Ser22524Asn) rs397517670
NM_001267550.2(TTN):c.70274G>C (p.Ser23425Thr) rs980974415
NM_001267550.2(TTN):c.74468C>G (p.Ala24823Gly) rs368071644
NM_001267550.2(TTN):c.75296C>A (p.Ala25099Glu) rs1707934758
NM_001267550.2(TTN):c.78068T>C (p.Ile26023Thr) rs572384303
NM_001267550.2(TTN):c.81036G>T (p.Lys27012Asn) rs550999055
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro) rs55704830
NM_003476.5(CSRP3):c.76A>G (p.Asn26Asp) rs1408098337
NM_014000.3(VCL):c.1157A>G (p.Lys386Arg) rs200342284
NM_133379.5(TTN):c.11684T>C (p.Ile3895Thr) rs2085229392
NM_144573.4(NEXN):c.826G>A (p.Glu276Lys) rs1649891198

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