ClinVar Miner

List of variants in gene CUBN reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001081.4(CUBN):c.2594G>A (p.Ser865Asn) rs138083522 0.00756
NM_001081.4(CUBN):c.6469A>G (p.Asn2157Asp) rs144360241 0.00541
NM_001081.4(CUBN):c.2756A>G (p.His919Arg) rs148869805 0.00464
NM_001081.4(CUBN):c.10383C>T (p.Ser3461=) rs141937843 0.00363
NM_001081.4(CUBN):c.4200C>T (p.Gly1400=) rs150663813 0.00159
NM_001081.4(CUBN):c.7509G>A (p.Pro2503=) rs201001705 0.00105
NM_001081.4(CUBN):c.9078C>T (p.Phe3026=) rs140524729 0.00091
NM_001081.4(CUBN):c.3252A>G (p.Gln1084=) rs142560894 0.00042
NM_001081.4(CUBN):c.5196C>T (p.Thr1732=) rs182162293 0.00035
NM_001081.4(CUBN):c.2922C>T (p.Phe974=) rs201802902 0.00014
NM_001081.4(CUBN):c.1230C>T (p.Ile410=) rs144627803 0.00005
NM_001081.4(CUBN):c.1587C>T (p.His529=)
NM_001081.4(CUBN):c.2082C>T (p.Gly694=)
NM_001081.4(CUBN):c.2502C>T (p.Asn834=)
NM_001081.4(CUBN):c.2673C>T (p.Cys891=) rs386833778
NM_001081.4(CUBN):c.4002C>T (p.Ser1334=)
NM_001081.4(CUBN):c.4269G>A (p.Thr1423=)
NM_001081.4(CUBN):c.6276C>T (p.Cys2092=) rs146319349
NM_001081.4(CUBN):c.8279T>C (p.Ile2760Thr)
NM_001081.4(CUBN):c.9355C>T (p.Pro3119Ser)

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