ClinVar Miner

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

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 14
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HGVS dbSNP gnomAD frequency
NM_001371986.1(UNC80):c.9503C>T (p.Pro3168Leu) rs61271372 0.01165
NM_001371986.1(UNC80):c.3926C>T (p.Thr1309Ile) rs78846221 0.00633
NM_001371986.1(UNC80):c.92+7G>A rs200211384 0.00448
NM_001371986.1(UNC80):c.1620C>G (p.Ser540=) rs182186415 0.00381
NM_001371986.1(UNC80):c.9752C>G (p.Thr3251Arg) rs59504201 0.00276
NM_001371986.1(UNC80):c.7470C>T (p.Ala2490=) rs77708914 0.00238
NM_001371986.1(UNC80):c.404C>T (p.Thr135Ile) rs146163378 0.00230
NM_001371986.1(UNC80):c.9141C>T (p.Ser3047=) rs73003402 0.00200
NM_001371986.1(UNC80):c.3250+9A>G rs144170692 0.00196
NM_001371986.1(UNC80):c.9933G>A (p.Glu3311=) rs138970658 0.00150
NM_001371986.1(UNC80):c.1818G>A (p.Pro606=) rs61742726 0.00141
NM_001371986.1(UNC80):c.765T>C (p.Cys255=) rs145935313 0.00062
NM_001371986.1(UNC80):c.8528C>T (p.Ala2843Val) rs199561408 0.00049
NM_001371986.1(UNC80):c.9504G>A (p.Pro3168=) rs376511864 0.00031

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