ClinVar Miner

List of variants reported as likely benign for Myofibrillar Myopathy, Dominant

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_007078.3(LDB3):c.-24+8T>C rs2803558 0.72185
NM_001368067.1(LDB3):c.504T>C (p.Asp168=) rs76615432 0.06909
NM_007078.3(LDB3):c.690-4842G>A rs113445294 0.06823
NM_001927.4(DES):c.1026C>T (p.Asn342=) rs61731508 0.02125
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165 0.01671
NM_001927.4(DES):c.*662G>A rs116635264 0.01332
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699 0.01015
NM_001927.4(DES):c.1375G>A (p.Val459Ile) rs73991549 0.00981
NM_007078.3(LDB3):c.896+6959C>T rs139415121 0.00968
NM_007078.3(LDB3):c.302C>T (p.Pro101Leu) rs45592139 0.00960
NM_058246.4(DNAJB6):c.*639A>G rs76450641 0.00706
NM_058246.4(DNAJB6):c.*776C>T rs115297289 0.00683
NM_058246.4(DNAJB6):c.-86G>A rs562984002 0.00659
NM_058246.4(DNAJB6):c.*72C>T rs116630040 0.00519
NM_058246.4(DNAJB6):c.*88G>A rs139193261 0.00398
NM_006790.3(MYOT):c.1008G>T (p.Val336=) rs142828368 0.00381
NM_058246.4(DNAJB6):c.*489T>C rs187704048 0.00309
NM_007078.3(LDB3):c.163G>A (p.Val55Ile) rs3740343 0.00292
NM_058246.4(DNAJB6):c.279C>T (p.Phe93=) rs149278319 0.00191
NM_001927.4(DES):c.792C>T (p.Asp264=) rs150370918 0.00168
NM_006790.3(MYOT):c.981T>C (p.Asn327=) rs148479015 0.00133
NM_001927.4(DES):c.18G>A (p.Ser6=) rs199972656 0.00104
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929 0.00088
NM_006790.3(MYOT):c.-233C>A rs186433387 0.00069
NM_058246.4(DNAJB6):c.-43G>T rs566594165 0.00060
NM_058246.4(DNAJB6):c.*902C>T rs547235102 0.00056
NM_001927.4(DES):c.-44G>A rs184826121 0.00055
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_001927.4(DES):c.924C>T (p.Asn308=) rs578191306 0.00030
NM_006790.3(MYOT):c.617G>A (p.Gly206Asp) rs151094883 0.00028
NM_004281.4(BAG3):c.898G>A (p.Asp300Asn) rs78439745 0.00026
NM_001289808.2(CRYAB):c.-21C>T rs376222434 0.00019
NM_001927.4(DES):c.635G>A (p.Arg212Gln) rs144261171 0.00019
NM_001927.4(DES):c.*198G>A rs560055588 0.00013
NM_001927.4(DES):c.665G>A (p.Arg222His) rs367961979 0.00011
NM_001927.4(DES):c.*559G>A rs547498920 0.00003
NM_001927.4(DES):c.897+4_897+5del rs397516699
NM_004281.4(BAG3):c.468GGC[4] (p.Ala160dup) rs139438727

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