ClinVar Miner

Variants in gene VPS13D with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 11
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HGVS dbSNP gnomAD frequency
NM_015378.4(VPS13D):c.459A>C (p.Gln153His) rs116415833 0.00120
NM_015378.4(VPS13D):c.1414+5G>A rs190463258 0.00110
NM_015378.4(VPS13D):c.6303T>G (p.His2101Gln) rs143933696 0.00066
NM_015378.4(VPS13D):c.12140A>G (p.Asn4047Ser) rs138906978 0.00062
NM_015378.4(VPS13D):c.1728A>G (p.Gln576=) rs142087616 0.00027
NM_015378.4(VPS13D):c.8722A>T (p.Thr2908Ser) rs184253678 0.00013
NM_015378.4(VPS13D):c.7722G>C (p.Leu2574=) rs746257631 0.00004
NM_015378.4(VPS13D):c.10917+4A>G
NM_015378.4(VPS13D):c.1103A>T (p.Asp368Val)
NM_015378.4(VPS13D):c.276G>T (p.Glu92Asp)
NM_015378.4(VPS13D):c.5270A>T (p.Asp1757Val)

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