ClinVar Miner

List of variants in gene combination SP110, SP140 reported as benign for cardiovascular disorder

Included ClinVar conditions (1435):
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_080424.4(SP110):c.334T>C (p.Trp112Arg) rs1129411 0.91532
NM_080424.4(SP110):c.895G>A (p.Gly299Arg) rs1365776 0.71538
NM_080424.4(SP110):c.668-21A>C rs3820974 0.48767
NM_080424.4(SP110):c.584-9C>T rs41309096 0.27398
NM_080424.4(SP110):c.617C>T (p.Ala206Val) rs28930679 0.20608
NM_080424.4(SP110):c.619G>A (p.Glu207Lys) rs9061 0.08779
NM_080424.4(SP110):c.334= (p.Trp112=) rs1129411 0.08468
NM_080424.4(SP110):c.1038G>C (p.Ser346=) rs7606916 0.07450
NM_080424.4(SP110):c.383C>T (p.Ala128Val) rs11556887 0.07082
NM_080424.4(SP110):c.1100C>T (p.Thr367Met) rs59573011 0.01618
NM_080424.4(SP110):c.376G>A (p.Gly126Ser) rs41309088 0.01459
NM_080424.4(SP110):c.1130-11A>G rs41547617 0.00503
NM_080424.4(SP110):c.583+8A>G rs114743173 0.00224
NM_080424.4(SP110):c.584-10C>G rs148591984 0.00188
NM_080424.4(SP110):c.522C>T (p.Pro174=) rs144428054 0.00137
NM_080424.4(SP110):c.978T>G (p.Thr326=) rs145246759 0.00109
NM_080424.4(SP110):c.542T>G (p.Leu181Arg) rs77642505 0.00058
NM_080424.4(SP110):c.745A>G (p.Met249Val) rs3769838 0.00036
NM_080424.4(SP110):c.351A>G (p.Thr117=) rs115460481 0.00009
NM_080424.4(SP110):c.519G>A (p.Ser173=) rs114550400 0.00006
NM_080424.4(SP110):c.989C>T (p.Thr330Met) rs141019373 0.00002
NM_080424.4(SP110):c.830-20del

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