ClinVar Miner

Variants in gene UNC13D with conflicting interpretations "benign" and "uncertain significance"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 19
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HGVS dbSNP gnomAD frequency
NM_199242.3(UNC13D):c.175G>A (p.Ala59Thr) rs9904366 0.01403
NM_199242.3(UNC13D):c.753+3G>A rs116229331 0.00627
NM_199242.3(UNC13D):c.2335G>A (p.Val779Met) rs113861754 0.00355
NM_199242.3(UNC13D):c.2983G>C (p.Ala995Pro) rs138760432 0.00105
NM_199242.3(UNC13D):c.24G>A (p.Pro8=) rs143320460 0.00095
NM_199242.3(UNC13D):c.99G>A (p.Pro33=) rs147886860 0.00090
NM_199242.3(UNC13D):c.1389+12G>A rs199536082 0.00070
NM_199242.3(UNC13D):c.858+12A>C rs191712530 0.00063
NM_199242.3(UNC13D):c.1174-15C>G rs374069629 0.00059
NM_199242.3(UNC13D):c.3078C>T (p.Pro1026=) rs372034111 0.00056
NM_199242.3(UNC13D):c.2553+5C>G rs201930023 0.00051
NM_199242.3(UNC13D):c.1228A>C (p.Ile410Leu) rs117221419 0.00040
NM_199242.3(UNC13D):c.1215C>T (p.Tyr405=) rs143184345 0.00034
NM_199242.3(UNC13D):c.3033C>T (p.Ala1011=) rs144730861 0.00030
NM_199242.3(UNC13D):c.811C>T (p.Pro271Ser) rs139564938 0.00020
NM_199242.3(UNC13D):c.2554-13A>G rs533490795 0.00004
NM_199242.3(UNC13D):c.569+10C>T rs368069154 0.00004
NM_199242.3(UNC13D):c.1204C>T (p.Leu402=) rs568125844
NM_199242.3(UNC13D):c.1728-13C>T rs745855631

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