Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518834
DMD
X 32849737 frameshift variant C/- delins 9
rs1557106484 X 77633315 missense variant C/A snv 7
rs113331868 5 150228191 splice donor variant C/A;T snv 6
rs1555358382 14 54844115 stop gained G/A snv 6
rs724159954 21 37490353 frameshift variant -/A delins 6
rs724159956 21 37496249 frameshift variant -/G delins 6
rs724159951 21 37493101 missense variant T/C snv 6
rs724159952 21 37490451 frameshift variant -/G delins 6
rs1057518962
DMD
X 32573812 stop gained C/A;G;T snv 5.5E-06; 5.5E-06 6
rs1057518886 11 119090043 frameshift variant C/- delins 5
rs879255368 19 41984953 missense variant C/G;T snv 5
rs1565369746 11 64297507 missense variant C/A snv 5
rs1189909394 11 64298178 missense variant G/A;C snv 7.0E-06 5
rs1553196096 1 22086463 missense variant G/A snv 5
rs1557315928
DMD
X 32380517 stop gained C/T snv 4
rs148292941 1 161171095 stop gained T/C;G snv 8.0E-06 6.3E-05 4
rs1565569158 12 6939148 missense variant A/G snv 4
rs1556411578 X 108595507 coding sequence variant AAGGTGACA/- delins 4
rs1553510492 2 161419040 missense variant A/G snv 4
rs1057518874 15 44598738 missense variant C/A snv 4
rs1554726245 9 134834982 inframe deletion ACGCCGAGG/- delins 4
rs773690764 11 68917781 stop gained C/T snv 4.0E-06 1.4E-05 4
rs1555969528
AR
X 67545375 stop gained C/T snv 4
rs879253742 X 71111493 missense variant A/G snv 4
rs1554139771 5 88804732 stop gained CA/- delins 3