ClinVar Miner

List of variants reported as likely pathogenic by Center for Genetic Medicine Research,Children's National Medical Center

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Total variants: 33
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HGVS dbSNP
NM_000070.2(CAPN3):c.[223dupT];[439C>T]
NM_000257.4(MYH7):c.452C>T (p.Pro151Leu) rs730880837
NM_000426.3(LAMA2):c.[7691T>C];[9253C>T]
NM_000540.2(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058
NM_000540.2(RYR1):c.1438G>A (p.Glu480Lys) rs878854375
NM_000540.2(RYR1):c.[14524G>A];[2029C>T]
NM_000540.2(RYR1):c.[14645C>T];[6721C>T]
NM_001039885.2(FKRP):c.[74C>A(;)76_77del(;)826C>A]
NM_001100.3(ACTA1):c.460G>C (p.Val154Leu) rs768144106
NM_001100.3(ACTA1):c.923A>G (p.Tyr308Cys) rs878854374
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp) rs398123787
NM_001267550.2(TTN):c.[102956_102958delCAA];[62722C>T]
NM_001267550.2(TTN):c.[106531+2T>A];[107867delT]
NM_001267550.2(TTN):c.[32471-1G>A];[55732+5G>C]
NM_001267550.2(TTN):c.[39547+3A>G];[42151+1G>C]
NM_001267550.2(TTN):c.[42315_42318delGAAA];[67349-2A>C]
NM_001271208.1(NEB):c.[7291G>A];[7523_7526delTCAA]
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_001849.3(COL6A2):c.954G>T (p.Lys318Asn) rs878854362
NM_001927.4(DES):c.1216C>T (p.Arg406Trp) rs121913003
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_003289.3(TPM2):c.181T>C (p.Ser61Pro) rs878854363
NM_003494.3(DYSF):c.2643+1G>A rs140108514
NM_003494.3(DYSF):c.[2643+1G>A];[3113G>A]
NM_004006.2(DMD):c.10507_10508AG[1] (p.Glu3505fs) rs878854366
NM_004369.3(COL6A3):c.7264C>T (p.Arg2422Ter) rs878854379
NM_013382.5(POMT2):c.1997A>G (p.Tyr666Cys) rs200198778
NM_013382.5(POMT2):c.[1170_1171delTA];[1261C>T]
NM_033337.2(CAV3):c.100G>A (p.Glu34Lys) rs199476325
NM_152263.4(TPM3):c.502C>G (p.Arg168Gly) rs121964854
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_213599.2(ANO5):c.172C>T (p.Arg58Trp) rs201725369
NM_213599.2(ANO5):c.352del (p.Glu118fs) rs878854367

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