ClinVar Miner

List of variants in gene VPS13B reported by Athena Diagnostics Inc

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Gene type:
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Total variants: 43
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HGVS dbSNP
NM_015243.2(VPS13B):c.1248G>T (p.Gln416His) rs143024324
NM_015243.2(VPS13B):c.1594C>T (p.Arg532Trp) rs369930405
NM_015243.2(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319
NM_015243.2(VPS13B):c.2451T>C (p.His817=) rs114120664
NM_015243.2(VPS13B):c.2485G>A (p.Ala829Thr) rs61753721
NM_015243.2(VPS13B):c.983A>G (p.His328Arg) rs181625846
NM_017890.4(VPS13B):c.10140G>T (p.Ala3380=) rs61753726
NM_017890.4(VPS13B):c.10294G>A (p.Gly3432Arg) rs6468694
NM_017890.4(VPS13B):c.11016C>T (p.Ala3672=)
NM_017890.4(VPS13B):c.11146G>A (p.Ala3716Thr) rs142476821
NM_017890.4(VPS13B):c.11162G>A (p.Arg3721Gln) rs757726642
NM_017890.4(VPS13B):c.11688C>T (p.Phe3896=) rs139436386
NM_017890.4(VPS13B):c.2617A>G (p.Met873Val)
NM_017890.4(VPS13B):c.2760A>G (p.Leu920=) rs138661755
NM_017890.4(VPS13B):c.2764C>T (p.Pro922Ser) rs371120818
NM_017890.4(VPS13B):c.2816A>G (p.His939Arg) rs1563641697
NM_017890.4(VPS13B):c.3083-1G>A rs1563726973
NM_017890.4(VPS13B):c.3203C>T (p.Thr1068Ile) rs61753722
NM_017890.4(VPS13B):c.3243A>G (p.Pro1081=) rs34961653
NM_017890.4(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485
NM_017890.4(VPS13B):c.3445+7_3445+9dup rs1335342521
NM_017890.4(VPS13B):c.3667-7C>T rs35543295
NM_017890.4(VPS13B):c.3706G>A (p.Val1236Ile) rs769743278
NM_017890.4(VPS13B):c.3751A>G (p.Thr1251Ala) rs184693266
NM_017890.4(VPS13B):c.4832A>G (p.Asn1611Ser) rs147342579
NM_017890.4(VPS13B):c.5025-9A>G rs373474658
NM_017890.4(VPS13B):c.5168G>T (p.Gly1723Val) rs368362777
NM_017890.4(VPS13B):c.5681C>T (p.Thr1894Met) rs117148013
NM_017890.4(VPS13B):c.5920C>T (p.Arg1974Ter) rs180177365
NM_017890.4(VPS13B):c.6491A>G (p.Asn2164Ser) rs142248228
NM_017890.4(VPS13B):c.7227G>A (p.Pro2409=) rs61753725
NM_017890.4(VPS13B):c.7654G>A (p.Ala2552Thr)
NM_017890.4(VPS13B):c.7735G>C (p.Val2579Leu) rs202226215
NM_017890.4(VPS13B):c.7744G>A (p.Asp2582Asn)
NM_017890.4(VPS13B):c.7753G>A (p.Glu2585Lys) rs111751379
NM_017890.4(VPS13B):c.7987T>C (p.Tyr2663His) rs761563766
NM_017890.4(VPS13B):c.8234T>C (p.Val2745Ala) rs369898130
NM_017890.4(VPS13B):c.8319G>A (p.Ser2773=)
NM_017890.4(VPS13B):c.8755A>G (p.Ile2919Val)
NM_017890.4(VPS13B):c.8833C>T (p.Pro2945Ser) rs1554567542
NM_017890.4(VPS13B):c.9405+10T>A rs75904081
NM_017890.4(VPS13B):c.9567T>C (p.Ser3189=) rs36074608
NM_017890.4(VPS13B):c.9667C>T (p.Arg3223Trp) rs149842139

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