ClinVar Miner

List of variants in gene SP110 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: 17
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HGVS dbSNP gnomAD frequency
NM_080424.4(SP110):c.1274T>C (p.Leu425Ser) rs3948464 0.86768
NM_080424.4(SP110):c.1568T>C (p.Met523Thr) rs1135791 0.39929
NM_080424.4(SP110):c.1274= (p.Leu425=) rs3948464 0.13232
NM_080424.4(SP110):c.1815+14A>G rs34034766 0.11238
NM_080424.4(SP110):c.1731C>T (p.Cys577=) rs13018234 0.10366
NM_080424.4(SP110):c.1737G>A (p.Met579Ile) rs3948463 0.05302
NM_080424.4(SP110):c.1650T>C (p.Gly550=) rs35495464 0.05293
NM_080424.4(SP110):c.1447G>A (p.Gly483Arg) rs149485401 0.00856
NM_080424.4(SP110):c.1647C>T (p.Cys549=) rs116626378 0.00462
NM_080424.4(SP110):c.1464C>T (p.Cys488=) rs147355697 0.00399
NM_080424.4(SP110):c.1706+20G>A rs192671550 0.00129
NM_080424.4(SP110):c.1413G>A (p.Ala471=) rs147519012 0.00085
NM_080424.4(SP110):c.1591-9C>T rs202101309 0.00058
NM_080424.4(SP110):c.2006G>A (p.Arg669His) rs115347862 0.00044
NM_080424.4(SP110):c.1956G>A (p.Thr652=) rs115116751 0.00016
NM_080424.4(SP110):c.*205_*206A[4]TTAA[1] rs5839361
NM_080424.4(SP110):c.1815+20C>T rs199946971

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