ClinVar Miner

List of variants in gene CRPPA reported as benign for Congenital Muscular Dystrophy, alpha-dystroglycan related

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_001101426.4(CRPPA):c.*2148T>C rs9691136 0.99613
NM_001101426.4(CRPPA):c.*988G>T rs1918859 0.82641
NM_001101426.4(CRPPA):c.*60G>A rs1528137 0.79538
NM_001101426.4(CRPPA):c.*1677A>G rs1528136 0.72029
NM_001101426.4(CRPPA):c.*2167G>A rs28379235 0.60518
NM_001101426.4(CRPPA):c.534+13T>A rs6461252 0.47530
NM_001101426.4(CRPPA):c.*4023C>A rs12539174 0.31991
NM_001101426.4(CRPPA):c.*2106C>T rs11773533 0.31853
NM_001101426.4(CRPPA):c.*2333T>C rs201756228 0.09845
NM_001101426.4(CRPPA):c.*2149A>C rs28569130 0.04280
NM_001101426.4(CRPPA):c.*321A>G rs7788119 0.04055
NM_001101426.4(CRPPA):c.*791T>C rs17150159 0.03990
NM_001101426.4(CRPPA):c.*2566A>G rs76015838 0.03479
NM_001101426.4(CRPPA):c.726A>G (p.Gln242=) rs61746966 0.02927
NM_001101426.4(CRPPA):c.407C>T (p.Ala136Val) rs61734789 0.02478
NM_001101426.4(CRPPA):c.*1849G>A rs60843615 0.02271
NM_001101426.4(CRPPA):c.*1848C>T rs78791023 0.01572
NM_001101426.4(CRPPA):c.*1099C>T rs141259768 0.01545
NM_001101426.4(CRPPA):c.*2181A>G rs183114712 0.00916
NM_001101426.4(CRPPA):c.*2368T>G rs9691122 0.00849
NM_001101426.4(CRPPA):c.*2276T>C rs117664754 0.00721
NM_001101426.4(CRPPA):c.947C>A (p.Thr316Lys) rs114363936 0.00703
NM_001101426.4(CRPPA):c.*86A>G rs16878685 0.00512
NM_001101426.4(CRPPA):c.*2491C>T rs80084340 0.00351
NM_001101426.4(CRPPA):c.1220T>C (p.Leu407Ser) rs141625803 0.00164
NM_001101426.4(CRPPA):c.*112T>G rs16878683 0.00069
NM_001101426.4(CRPPA):c.*3091C>G rs552453133 0.00021
NM_001101426.4(CRPPA):c.*2325C>T rs201774908 0.00001
NM_001101426.4(CRPPA):c.*1043C>G rs149771453
NM_001101426.4(CRPPA):c.*2321_*2324dup rs138718602
NM_001101426.4(CRPPA):c.*2326A>G rs200989147
NM_001101426.4(CRPPA):c.*2328G>A rs199541295
NM_001101426.4(CRPPA):c.*3275_*3282del rs71549971
NM_001101426.4(CRPPA):c.*3475C>T rs80341455
NM_001101426.4(CRPPA):c.*34C>G rs16878689
NM_001101426.4(CRPPA):c.*450T>A rs73289965

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