ClinVar Miner

List of variants reported as benign for Autosomal recessive limb-girdle muscular dystrophy type 2F

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000337.6(SGCD):c.*6717G>A rs1827368 0.90091
NM_000337.6(SGCD):c.-94C>G rs13170573 0.42969
NM_000337.6(SGCD):c.84T>C (p.Tyr28=) rs1801193 0.40745
NM_000337.6(SGCD):c.*3772dup rs397841758 0.19267
NM_000337.6(SGCD):c.*5863C>T rs11953631 0.15411
NM_000337.6(SGCD):c.*4092A>G rs56389540 0.09897
NM_000337.6(SGCD):c.*3650G>T rs72803044 0.08674
NM_000337.6(SGCD):c.290G>A (p.Arg97Gln) rs45559835 0.04192
NM_000337.6(SGCD):c.700-19T>C rs80086857 0.02231
NM_000337.6(SGCD):c.295-40T>A rs74571343 0.01950
NM_000337.6(SGCD):c.*822C>T rs78615220 0.00735
NM_000337.6(SGCD):c.507G>A (p.Ala169=) rs10071079 0.00635
NM_000337.6(SGCD):c.294+8T>C rs11748588 0.00606
NM_000337.6(SGCD):c.144G>C (p.Val48=) rs372152495 0.00106
NM_000337.6(SGCD):c.699+18C>G rs180898690 0.00031
NM_000337.6(SGCD):c.3+20G>A rs187786098 0.00023
NM_000337.6(SGCD):c.3+11C>T rs374790317 0.00010
NM_000337.6(SGCD):c.15G>C (p.Glu5Asp) rs549319429 0.00004
NM_000337.6(SGCD):c.3+14G>A rs538229806 0.00003
NM_000337.5(SGCD):c.-626_-616del rs149976574
NM_000337.6(SGCD):c.105G>C (p.Leu35=) rs193922392
NM_000337.6(SGCD):c.226G>T (p.Gly76Cys) rs376659221
NM_000337.6(SGCD):c.503-16del rs1561835980
NM_000337.6(SGCD):c.516A>G (p.Thr172=) rs753952200
NM_000337.6(SGCD):c.699+13_699+15del rs397517924

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