ClinVar Miner

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

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 20
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HGVS dbSNP gnomAD frequency
NM_015378.4(VPS13D):c.9024T>C (p.Ile3008=) rs41279460 0.01391
NM_015378.4(VPS13D):c.8647C>T (p.Arg2883Cys) rs143194636 0.00505
NM_015378.4(VPS13D):c.2859G>A (p.Gln953=) rs139222925 0.00503
NM_015378.4(VPS13D):c.613A>G (p.Ile205Val) rs61774897 0.00232
NM_015378.4(VPS13D):c.6282G>A (p.Thr2094=) rs111417481 0.00223
NM_015378.4(VPS13D):c.3960C>T (p.Ser1320=) rs77854026 0.00219
NM_015378.4(VPS13D):c.1029G>A (p.Leu343=) rs145431020 0.00206
NM_015378.4(VPS13D):c.11882-8T>C rs144848289 0.00201
NM_015378.4(VPS13D):c.9501A>G (p.Ala3167=) rs140401958 0.00152
NM_015378.4(VPS13D):c.849C>T (p.Tyr283=) rs138858983 0.00136
NM_015378.4(VPS13D):c.11061C>T (p.Leu3687=) rs144641446 0.00123
NM_015378.4(VPS13D):c.10636A>G (p.Met3546Val) rs142394129 0.00047
NM_015378.4(VPS13D):c.3178G>A (p.Asp1060Asn) rs200303790 0.00044
NM_015378.4(VPS13D):c.10755G>A (p.Arg3585=) rs779699599 0.00006
NM_015378.4(VPS13D):c.10005G>A (p.Thr3335=) rs147297376
NM_015378.4(VPS13D):c.2856G>A (p.Ser952=)
NM_015378.4(VPS13D):c.5235G>A (p.Ala1745=)
NM_015378.4(VPS13D):c.8561T>G (p.Leu2854Arg)
NM_015378.4(VPS13D):c.9762C>T (p.Leu3254=)

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