ClinVar Miner

List of variants in gene VPS13A reported as likely benign by Illumina Laboratory Services, Illumina

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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_033305.3(VPS13A):c.8676C>T (p.Ile2892=) rs117485827 0.00672
NM_033305.3(VPS13A):c.5979C>T (p.Arg1993=) rs41289971 0.00487
NM_033305.3(VPS13A):c.3083A>G (p.Glu1028Gly) rs148656796 0.00425
NM_033305.3(VPS13A):c.2037+8C>A rs41289961 0.00417
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys) rs149694033 0.00397
NM_033305.3(VPS13A):c.2667+12G>A rs199995355 0.00342
NM_033305.3(VPS13A):c.101-7T>C rs190684534 0.00338
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp) rs41307461 0.00255
NM_033305.3(VPS13A):c.4642G>A (p.Glu1548Lys) rs41289967 0.00213
NM_033305.3(VPS13A):c.3356G>A (p.Gly1119Glu) rs144358567 0.00207
NM_033305.3(VPS13A):c.1758T>C (p.Ala586=) rs149037185 0.00199
NM_033305.3(VPS13A):c.5831-8T>C rs113702270 0.00190
NM_033305.3(VPS13A):c.9078-7C>T rs186819389 0.00183
NM_033305.3(VPS13A):c.6096-7C>T rs190144287 0.00061
NM_033305.3(VPS13A):c.7456A>G (p.Ile2486Val) rs142981309 0.00030
NM_033305.3(VPS13A):c.2124A>G (p.Ser708=) rs199682779 0.00029
NM_033305.3(VPS13A):c.1453-15C>T rs200334710 0.00020
NM_033305.3(VPS13A):c.283+20del rs199782752
NM_033305.3(VPS13A):c.3961-6del rs3216012
NM_033305.3(VPS13A):c.6039C>A (p.Thr2013=) rs528628591
NM_033305.3(VPS13A):c.6880-6dup rs140476942

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