ClinVar Miner

List of variants reported as likely benign for Congenital Muscular Dystrophy, alpha-dystroglycan related

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_001101426.4(CRPPA):c.*2351C>T rs114572844 0.01443
NM_017739.4(POMGNT1):c.1257G>A (p.Leu419=) rs41292143 0.01062
NM_001101426.4(CRPPA):c.*3087G>A rs148322529 0.00802
NM_001101426.4(CRPPA):c.32C>G (p.Pro11Arg) rs192925278 0.00734
NM_001101426.4(CRPPA):c.*3374C>T rs141198656 0.00685
NM_001101426.4(CRPPA):c.346C>T (p.Arg116Cys) rs61744487 0.00561
NM_017739.4(POMGNT1):c.-11G>A rs80107141 0.00484
NM_017739.4(POMGNT1):c.120+13C>T rs12737140 0.00459
NM_017739.4(POMGNT1):c.*451C>T rs148903585 0.00364
NM_001101426.4(CRPPA):c.*1855G>C rs111577730 0.00327
NM_001101426.4(CRPPA):c.*2981C>T rs113434115 0.00327
NM_017739.4(POMGNT1):c.1298C>T (p.Thr433Met) rs146097254 0.00280
NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile) rs17102066 0.00264
NM_001101426.4(CRPPA):c.*2119C>A rs148625258 0.00218
NM_017739.4(POMGNT1):c.236-13T>C rs150578902 0.00196
NM_001101426.4(CRPPA):c.*2488G>A rs753515691 0.00080
NM_001101426.4(CRPPA):c.*2155A>C rs28463725 0.00041
NM_001101426.4(CRPPA):c.*2304A>G rs547400634 0.00025
NM_001101426.4(CRPPA):c.*3284A>G rs533594383 0.00010
NM_001101426.4(CRPPA):c.*2197G>C rs371376395 0.00003
NM_001101426.4(CRPPA):c.*1470T>G rs528279923
NM_001101426.4(CRPPA):c.*2219GTAC[3] rs58170479
NM_001101426.4(CRPPA):c.*2226_*2229dup rs200404448
NM_001101426.4(CRPPA):c.*2368_*2373del rs72267760
NM_001101426.4(CRPPA):c.*2493TA[2] rs72031454
NM_001101426.4(CRPPA):c.*3254C>G rs185506130
NM_001101426.4(CRPPA):c.*73TG[5] rs139003391
NM_001101426.4(CRPPA):c.685-25GTT[6] rs142647500
NM_001101426.4(CRPPA):c.836-9del rs3839757

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