ClinVar Miner

List of variants reported as likely benign for Limb-Girdle Muscular Dystrophy, Dominant

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_033337.3(CAV3):c.*645A>T rs11476 0.42415
NM_033337.3(CAV3):c.*811C>G rs10882 0.39333
NM_033337.3(CAV3):c.99C>T (p.Asn33=) rs1008642 0.35756
NM_033337.3(CAV3):c.*783A>G rs7629329 0.30735
NM_033337.3(CAV3):c.123T>C (p.Phe41=) rs13087941 0.23875
NM_033337.3(CAV3):c.*543T>C rs13093809 0.10412
NM_033337.3(CAV3):c.27C>T (p.Leu9=) rs1974763 0.08452
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) rs72546667 0.03558
NM_006790.3(MYOT):c.149A>G (p.Gln50Arg) rs34717730 0.02506
NM_006790.3(MYOT):c.-251A>G rs6863775 0.01894
NM_006790.3(MYOT):c.*190C>G rs74711051 0.01853
NM_033337.3(CAV3):c.171G>A (p.Val57=) rs61147808 0.01628
NM_033337.3(CAV3):c.*276C>T rs77367257 0.01623
NM_006790.3(MYOT):c.780G>A (p.Ser260=) rs116773838 0.01617
NM_058246.4(DNAJB6):c.*514G>A rs17837760 0.01319
NM_058246.4(DNAJB6):c.*604C>G rs78938721 0.00602
NM_058246.4(DNAJB6):c.899-6C>T rs78337193 0.00601
NM_006790.3(MYOT):c.1008G>T (p.Val336=) rs142828368 0.00381
NM_058246.4(DNAJB6):c.*489T>C rs187704048 0.00309
NM_058246.4(DNAJB6):c.*382G>A rs35743737 0.00228
NM_006790.3(MYOT):c.981T>C (p.Asn327=) rs148479015 0.00133
NM_006790.3(MYOT):c.-233C>A rs186433387 0.00069
NM_058246.4(DNAJB6):c.*787G>T rs184330731 0.00066
NM_006790.3(MYOT):c.1190+12A>G rs183456886 0.00055
NM_006790.3(MYOT):c.*463C>T rs149535236 0.00051
NM_058246.4(DNAJB6):c.692-13G>T rs192981897 0.00038
NM_006790.3(MYOT):c.617G>A (p.Gly206Asp) rs151094883 0.00028
NM_058246.4(DNAJB6):c.860G>A (p.Arg287Gln) rs368078459 0.00026
NM_033337.3(CAV3):c.*813del rs66667169
NM_058246.4(DNAJB6):c.*966C>T rs143332396
NM_058246.4(DNAJB6):c.948G>A (p.Ser316=) rs565527346

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