ClinVar Miner

List of variants in gene CRPPA reported as benign for congenital muscular dystrophy

Included ClinVar conditions (110):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001101426.4(CRPPA):c.789+89A>G rs62441885 0.50511
NM_001101426.4(CRPPA):c.534+13T>A rs6461252 0.47530
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.947C>A (p.Thr316Lys) rs114363936 0.00703
NM_001101426.4(CRPPA):c.346C>T (p.Arg116Cys) rs61744487 0.00561
NM_001101426.4(CRPPA):c.1251+18C>T rs201599524 0.00339
NM_001101426.4(CRPPA):c.1220T>C (p.Leu407Ser) rs141625803 0.00164
NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=) rs181099904 0.00151
NM_001101426.4(CRPPA):c.790-14T>C rs142414812 0.00123
NM_001101426.4(CRPPA):c.790-11C>T rs141363557 0.00101
NM_001101426.4(CRPPA):c.1251+16A>T rs187344556 0.00088
NM_001101426.4(CRPPA):c.222G>A (p.Arg74=) rs769058832 0.00056
NM_001101426.4(CRPPA):c.876A>G (p.Glu292=) rs371300262 0.00019
NM_001101426.4(CRPPA):c.1246C>T (p.Pro416Ser) rs373134516 0.00009
NM_001101426.4(CRPPA):c.1120-12del
NM_001101426.4(CRPPA):c.360C>T (p.Val120=) rs183141256
NM_001101426.4(CRPPA):c.534+13dup
NM_001101426.4(CRPPA):c.685-25GTT[6] rs142647500
NM_001101426.4(CRPPA):c.836-19_836-18dup rs3839757
NM_001101426.4(CRPPA):c.836-19dup rs3839757
NM_001101426.4(CRPPA):c.836-9del rs3839757

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