Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs977277400
MYBPC3
11 47336012 splice acceptor variant C/G snv 2
rs876657704
MYBPC3
11 47337489 frameshift variant C/- del 1
rs397515939
MYBPC3
11 47339758 missense variant G/A;C snv 8.0E-06 1
rs1565628520
MYBPC3
11 47343585 stop gained -/GCTCACCTGGTAGGCCGGCTCCAGCTTCT delins 1
rs730880714
MYBPC3
11 47337721 frameshift variant C/- del 1
rs730880689
MYBPC3
11 47343543 stop gained -/TGGTCAGCCAGTTCCA delins 1
rs730880718
MYBPC3
11 47333553 splice donor variant CCAACAACCTGCA/- delins 1
rs1565623439
MYBPC3
11 47333627 frameshift variant TGAAT/- del 1
rs1565627145
MYBPC3
11 47341183 frameshift variant -/C delins 1
rs1565626367
MYBPC3
11 47339656 frameshift variant -/ATAG delins 1
rs1565623713
MYBPC3
11 47333996 frameshift variant -/A delins 1
rs730880719
MYBPC3
11 47333197 frameshift variant G/- delins 1
rs730880715
MYBPC3
11 47337450 frameshift variant G/- del 1
rs730880675
MYBPC3
11 47332823 frameshift variant ATAAAGACGG/- delins 1
rs730880717
MYBPC3
11 47335038 splice donor variant TCACGCAGGATCTCCT/- del 1
rs730880671
MYBPC3
11 47333221 frameshift variant GT/- delins 1
rs730880655
MYBPC3
11 47336010 frameshift variant A/- del 1
rs1565623093
MYBPC3
11 47333209 frameshift variant G/- delins 1
rs1565627110
MYBPC3
11 47341145 frameshift variant G/- del 1
rs587782958
MYBPC3
0.790 0.120 11 47333552 splice region variant C/T snv 1.7E-05 10
rs121909374
MYBPC3
0.790 0.120 11 47342578 stop gained C/A;G snv 1.3E-05 6
rs397516042
MYBPC3
0.827 0.120 11 47332075 stop gained G/A snv 8.1E-06 7.0E-06 5
rs397516074
MYBPC3
0.827 0.120 11 47348424 missense variant C/T snv 1.7E-05 4.2E-05 4
rs573916965
MYBPC3
0.827 0.080 11 47346297 stop gained C/A;T snv 2.5E-04 4
rs375882485
MYBPC3
0.827 0.080 11 47342698 missense variant G/A snv 4.0E-05 9.8E-05 4