ClinVar Miner

List of variants in gene VPS13B reported as uncertain significance by Revvity Omics, Revvity

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Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser) rs145569846 0.00178
NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr) rs140095832 0.00077
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg) rs143205296 0.00068
NM_152564.5(VPS13B):c.3656C>G (p.Ser1219Cys) rs149478021 0.00067
NM_152564.5(VPS13B):c.2356A>G (p.Ile786Val) rs202052403 0.00029
NM_152564.5(VPS13B):c.9369C>T (p.Cys3123=) rs745668942 0.00018
NM_152564.5(VPS13B):c.11392+771C>A rs954860162 0.00011
NM_152564.5(VPS13B):c.11144G>A (p.Arg3715Gln) rs141566041 0.00007
NM_152564.5(VPS13B):c.1289G>C (p.Gly430Ala) rs147448147 0.00006
NM_152564.5(VPS13B):c.9035C>G (p.Thr3012Ser) rs576577339 0.00005
NM_152564.5(VPS13B):c.5378G>A (p.Arg1793His) rs763703607 0.00004
NM_152564.5(VPS13B):c.557A>G (p.Asp186Gly) rs373678127 0.00004
NM_152564.5(VPS13B):c.4746-3794A>C rs1046269337 0.00003
NM_152564.5(VPS13B):c.5761A>G (p.Thr1921Ala) rs112749780 0.00003
NM_152564.5(VPS13B):c.10238C>T (p.Ala3413Val) rs930006569 0.00001
NM_152564.5(VPS13B):c.2512A>G (p.Ile838Val) rs147924250 0.00001
NM_152564.5(VPS13B):c.2516-3T>A rs377723973 0.00001
NM_152564.5(VPS13B):c.7345T>C (p.Trp2449Arg) rs1053258649 0.00001
NM_152564.5(VPS13B):c.10059C>G (p.Asn3353Lys) rs1816116104
NM_152564.5(VPS13B):c.1056T>G (p.Phe352Leu) rs2488710428
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup) rs386834068
NM_152564.5(VPS13B):c.1891C>A (p.Leu631Ile) rs1810826717
NM_152564.5(VPS13B):c.2013+3A>G rs1810834447
NM_152564.5(VPS13B):c.3178G>A (p.Val1060Ile) rs1259248038
NM_152564.5(VPS13B):c.3773G>A (p.Gly1258Glu) rs1052184770
NM_152564.5(VPS13B):c.3938G>A (p.Ser1313Asn) rs2490448311
NM_152564.5(VPS13B):c.8776AAG[1] (p.Lys2927del) rs549810522

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