ClinVar Miner

Variants in gene UNC80 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 11
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HGVS dbSNP gnomAD frequency
NM_001371986.1(UNC80):c.4141C>G (p.Pro1381Ala) rs192242889 0.00168
NM_001371986.1(UNC80):c.1806G>C (p.Gln602His) rs200473652 0.00163
NM_001371986.1(UNC80):c.9760C>A (p.Gln3254Lys) rs189916631 0.00095
NM_001371986.1(UNC80):c.3350G>C (p.Ser1117Thr) rs78499613 0.00073
NM_001371986.1(UNC80):c.3428A>C (p.Glu1143Ala) rs78912192 0.00063
NM_001371986.1(UNC80):c.2534C>T (p.Thr845Ile) rs372195299 0.00036
NM_001371986.1(UNC80):c.691G>A (p.Ala231Thr) rs144011305 0.00028
NM_001371986.1(UNC80):c.4763G>A (p.Arg1588Gln) rs182597438 0.00006
NM_001371986.1(UNC80):c.9179T>C (p.Ile3060Thr) rs1001497433 0.00004
NM_001371986.1(UNC80):c.1079G>T (p.Arg360Leu) rs532329476
NM_001371986.1(UNC80):c.398G>C (p.Gly133Ala) rs138421862

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