ClinVar Miner

List of variants reported as uncertain significance for not specified by Center for Genetic Medicine Research, Children's National Medical Center

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) rs143793528 0.00910
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys) rs146092501 0.00602
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184 0.00338
NM_001005361.3(DNM2):c.190G>A (p.Val64Ile) rs144250390 0.00243
NM_001267550.2(TTN):c.1297G>A (p.Val433Ile) rs146000949 0.00031
NM_001849.4(COL6A2):c.1358G>A (p.Arg453His) rs878854386 0.00009
NM_000426.4(LAMA2):c.9145C>G (p.Gln3049Glu) rs146525742 0.00006
NM_001849.4(COL6A2):c.503G>T (p.Ser168Ile) rs376564984 0.00004
NM_000540.3(RYR1):c.7244G>A (p.Arg2415Gln) rs201584482 0.00003
NM_001267550.2(TTN):c.30437T>A (p.Val10146Asp) rs372185371 0.00003
NM_004369.4(COL6A3):c.8168T>C (p.Ile2723Thr) rs373108028 0.00003
NM_001267550.2(TTN):c.50614G>C (p.Ala16872Pro) rs727503619 0.00001
NM_013382.7(POMT2):c.629T>C (p.Met210Thr) rs369654108 0.00001
NM_170707.4(LMNA):c.985C>G (p.Arg329Gly) rs775159300 0.00001
NM_000257.4(MYH7):c.3337-5_3337-4insG rs779144252
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs) rs202247790
NM_001005361.3(DNM2):c.853C>G (p.Leu285Val) rs878854382
NM_001100.4(ACTA1):c.341C>T (p.Pro114Leu) rs878854387
NM_001144996.1(ITGA7):c.[1011-4A>G];[2752C>T]
NM_001164508.2(NEB):c.1782+4_1782+5del rs398124168
NM_001164508.2(NEB):c.23557G>A (p.Val7853Ile) rs878854397
NM_001267550.2(TTN):c.101821A>T (p.Arg33941Ter) rs878854388
NM_001267550.2(TTN):c.19879T>G (p.Ser6627Ala) rs762585871
NM_001267550.2(TTN):c.3490G>T (p.Glu1164Ter) rs878854391
NM_001267550.2(TTN):c.43747+2T>C rs878854384
NM_001267550.2(TTN):c.48845T>C (p.Val16282Ala) rs878854396
NM_001267550.2(TTN):c.55418del (p.Arg18473fs) rs878854380
NM_001267550.2(TTN):c.91690G>T (p.Gly30564Ter) rs878854390
NM_001267550.2(TTN):c.[106154A>C];[45599C>G]
NM_001267550.2(TTN):c.[14217A>C];[84105A>T]
NM_001267550.2(TTN):c.[46387G>A];[75050T>C]
NM_001267550.2(TTN):c.[83315A>T];[91762G>A]
NM_001848.3(COL6A1):c.1425del (p.Gly476fs) rs878854398
NM_001848.3(COL6A1):c.1716del (p.Tyr573fs) rs878854381
NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn) rs535007570
NM_002206.3(ITGA7):c.2663G>A (p.Gly888Glu) rs878854395
NM_004006.3(DMD):c.799C>T (p.Gln267Ter) rs878854383
NM_004369.4(COL6A3):c.2218C>T (p.Arg740Cys) rs147182340
NM_006790.3(MYOT):c.314C>T (p.Pro105Leu) rs878854392
NM_020451.3(SELENON):c.713_714dup (p.Arg239fs) rs878854389
NM_033337.3(CAV3):c.380C>A (p.Thr127Asn) rs878854385

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