ClinVar Miner

List of variants in gene UNC80 reported as pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_001371986.1(UNC80):c.1513C>T (p.Arg505Ter) rs767633598 0.00002
NM_001371986.1(UNC80):c.1078C>T (p.Arg360Ter) rs200659479 0.00001
NM_001371986.1(UNC80):c.2527C>T (p.Arg843Ter) rs74517001 0.00001
NM_001371986.1(UNC80):c.286C>T (p.Arg96Ter) rs538956139 0.00001
NM_001371986.1(UNC80):c.4063C>T (p.Arg1355Ter) rs750226213 0.00001
NM_001371986.1(UNC80):c.4678C>T (p.Arg1560Ter) rs940692104 0.00001
NM_001371986.1(UNC80):c.4846G>T (p.Glu1616Ter) rs1475433563 0.00001
NM_001371986.1(UNC80):c.520C>T (p.Arg174Ter) rs751913925 0.00001
NM_001371986.1(UNC80):c.9520C>T (p.Arg3174Ter) rs1559456419 0.00001
NC_000002.12:g.209818993_209818994del
NM_001371986.1(UNC80):c.1228dup (p.Glu410fs)
NM_001371986.1(UNC80):c.1351G>T (p.Glu451Ter) rs2079784277
NM_001371986.1(UNC80):c.1357C>T (p.Arg453Ter) rs2079784643
NM_001371986.1(UNC80):c.1817del (p.Pro606fs)
NM_001371986.1(UNC80):c.1858C>T (p.Arg620Ter) rs2153827732
NM_001371986.1(UNC80):c.2019_2020del (p.Cys673_Asp674delinsTer)
NM_001371986.1(UNC80):c.2470C>T (p.Arg824Ter) rs1274923045
NM_001371986.1(UNC80):c.3190C>T (p.Arg1064Ter) rs1035839091
NM_001371986.1(UNC80):c.3205C>T (p.Arg1069Ter)
NM_001371986.1(UNC80):c.3226C>T (p.Arg1076Ter)
NM_001371986.1(UNC80):c.3328C>T (p.Arg1110Ter)
NM_001371986.1(UNC80):c.3535C>T (p.Arg1179Ter)
NM_001371986.1(UNC80):c.3853C>T (p.Arg1285Ter) rs1574855486
NM_001371986.1(UNC80):c.3894del (p.Asn1299fs)
NM_001371986.1(UNC80):c.3933dup (p.Arg1312fs)
NM_001371986.1(UNC80):c.409C>T (p.Arg137Ter) rs1289499829
NM_001371986.1(UNC80):c.422G>A (p.Trp141Ter)
NM_001371986.1(UNC80):c.4566del (p.Asn1522fs)
NM_001371986.1(UNC80):c.4609_4610del (p.Ser1537fs)
NM_001371986.1(UNC80):c.4985G>A (p.Trp1662Ter)
NM_001371986.1(UNC80):c.5476C>T (p.Gln1826Ter) rs2124953130
NM_001371986.1(UNC80):c.5642_5657dup (p.Glu1887fs)
NM_001371986.1(UNC80):c.5706_5710del (p.Gln1903fs)
NM_001371986.1(UNC80):c.5869C>T (p.Arg1957Ter) rs1262654975
NM_001371986.1(UNC80):c.5913del (p.Glu1971fs)
NM_001371986.1(UNC80):c.6036G>A (p.Trp2012Ter)
NM_001371986.1(UNC80):c.6184A>T (p.Lys2062Ter)
NM_001371986.1(UNC80):c.6216C>A (p.Cys2072Ter)
NM_001371986.1(UNC80):c.6445C>T (p.Gln2149Ter) rs1336618986
NM_001371986.1(UNC80):c.6475C>T (p.Arg2159Ter)
NM_001371986.1(UNC80):c.667C>T (p.Gln223Ter)
NM_001371986.1(UNC80):c.6893G>A (p.Trp2298Ter) rs1064796916
NM_001371986.1(UNC80):c.7645C>T (p.Arg2549Ter) rs2092524250
NM_001371986.1(UNC80):c.7782dup (p.Leu2595fs)
NM_001371986.1(UNC80):c.8008C>T (p.Arg2670Ter)
NM_001371986.1(UNC80):c.820del (p.Thr274fs) rs2153825777
NM_001371986.1(UNC80):c.8698del (p.Trp2900fs) rs886043644
NM_001371986.1(UNC80):c.8908del (p.Ile2970fs)
NM_001371986.1(UNC80):c.8940dup (p.Tyr2981fs) rs2125019136
NM_001371986.1(UNC80):c.9350_9356del (p.Asn3117fs) rs2125032555
NM_001371986.1(UNC80):c.9612_9615dup (p.Pro3206fs)
NM_001371986.1(UNC80):c.9643G>T (p.Glu3215Ter)

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