ClinVar Miner

List of variants in gene VPS13B reported as uncertain significance by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser) rs142674934 0.00069
NM_152564.5(VPS13B):c.7712C>T (p.Ser2571Phe) rs145208175 0.00068
NM_152564.5(VPS13B):c.1700G>A (p.Gly567Glu) rs141046414 0.00054
NM_152564.5(VPS13B):c.5803T>G (p.Ser1935Ala) rs138930771 0.00053
NM_152564.5(VPS13B):c.7366G>A (p.Val2456Ile) rs201963516 0.00027
NM_152564.5(VPS13B):c.9131A>C (p.Glu3044Ala) rs376652526 0.00012
NC_000008.10:g.(100287483_100396435)_(100403933_100443764)dup
NM_152564.5(VPS13B):c.11215+1641A>G
NM_152564.5(VPS13B):c.11967_11970dup (p.Ala3991Ter) rs769983613
NM_152564.5(VPS13B):c.1376G>A (p.Gly459Glu) rs1810005848
NM_152564.5(VPS13B):c.3G>A (p.Met1Ile) rs1060499779
NM_152564.5(VPS13B):c.4337G>A (p.Arg1446Gln)
NM_152564.5(VPS13B):c.4402CTT[1] (p.Leu1469del) rs386834088
NM_152564.5(VPS13B):c.4949+3A>G rs1824584392
NM_152564.5(VPS13B):c.5167_5168delinsTC (p.Gln1723Ser)
NM_152564.5(VPS13B):c.6657+3C>T
NM_152564.5(VPS13B):c.7462G>A (p.Asp2488Asn) rs780602782
NM_152564.5(VPS13B):c.9127G>A (p.Glu3043Lys) rs757673565

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