ClinVar Miner

List of variants in gene VPS13B reported as uncertain significance by Ambry Genetics

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Gene type:
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Total variants: 55
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HGVS dbSNP
NM_015243.2(VPS13B):c.1073G>A (p.Ser358Asn)
NM_015243.2(VPS13B):c.1248G>T (p.Gln416His) rs143024324
NM_015243.2(VPS13B):c.1289G>C (p.Gly430Ala) rs147448147
NM_015243.2(VPS13B):c.1586G>A (p.Gly529Glu)
NM_015243.2(VPS13B):c.1700G>A (p.Gly567Glu) rs141046414
NM_015243.2(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319
NM_015243.2(VPS13B):c.1981G>A (p.Asp661Asn) rs149334616
NM_015243.2(VPS13B):c.2048A>G (p.Gln683Arg)
NM_015243.2(VPS13B):c.2383A>G (p.Asn795Asp)
NM_015243.2(VPS13B):c.2473G>A (p.Ala825Thr) rs148788159
NM_015243.2(VPS13B):c.365C>T (p.Pro122Leu) rs201723380
NM_015243.2(VPS13B):c.505C>A (p.Leu169Ile)
NM_015243.2(VPS13B):c.983A>G (p.His328Arg) rs181625846
NM_017890.4(VPS13B):c.10017+4A>G
NM_017890.4(VPS13B):c.10034G>T (p.Gly3345Val) rs1563506534
NM_017890.4(VPS13B):c.10631T>C (p.Leu3544Ser) rs1563510051
NM_017890.4(VPS13B):c.10643A>G (p.Tyr3548Cys) rs398124326
NM_017890.4(VPS13B):c.10687G>A (p.Gly3563Arg) rs150767461
NM_017890.4(VPS13B):c.10718C>T (p.Thr3573Ile)
NM_017890.4(VPS13B):c.10756C>T (p.Arg3586Trp)
NM_017890.4(VPS13B):c.11017G>A (p.Asp3673Asn)
NM_017890.4(VPS13B):c.11146G>A (p.Ala3716Thr) rs142476821
NM_017890.4(VPS13B):c.11233G>A (p.Glu3745Lys) rs150393340
NM_017890.4(VPS13B):c.11270G>A (p.Arg3757Gln) rs149318176
NM_017890.4(VPS13B):c.11387C>T (p.Ser3796Leu) rs142516047
NM_017890.4(VPS13B):c.11570+4A>G rs1563519738
NM_017890.4(VPS13B):c.11825_11827dup (p.Asp3942dup) rs386834068
NM_017890.4(VPS13B):c.2596G>A (p.Val866Ile) rs150185067
NM_017890.4(VPS13B):c.2917A>G (p.Ser973Gly)
NM_017890.4(VPS13B):c.3249T>G (p.Asp1083Glu) rs1196083061
NM_017890.4(VPS13B):c.3363A>G (p.Ile1121Met) rs191099208
NM_017890.4(VPS13B):c.3382C>A (p.His1128Asn) rs1563732631
NM_017890.4(VPS13B):c.3811A>T (p.Thr1271Ser) rs142674934
NM_017890.4(VPS13B):c.4431A>T (p.Leu1477Phe)
NM_017890.4(VPS13B):c.5287G>C (p.Ala1763Pro)
NM_017890.4(VPS13B):c.5324A>G (p.Asp1775Gly)
NM_017890.4(VPS13B):c.5401G>T (p.Val1801Phe) rs547179338
NM_017890.4(VPS13B):c.5470C>T (p.Arg1824Cys)
NM_017890.4(VPS13B):c.5816G>A (p.Arg1939Gln) rs150272676
NM_017890.4(VPS13B):c.5965T>C (p.Ser1989Pro) rs148704031
NM_017890.4(VPS13B):c.5980A>G (p.Ile1994Val) rs139640224
NM_017890.4(VPS13B):c.6131A>G (p.Asn2044Ser)
NM_017890.4(VPS13B):c.6253A>G (p.Met2085Val)
NM_017890.4(VPS13B):c.6605G>A (p.Arg2202His)
NM_017890.4(VPS13B):c.7115A>G (p.Asp2372Gly) rs1563881705
NM_017890.4(VPS13B):c.7270G>A (p.Asp2424Asn) rs1563907935
NM_017890.4(VPS13B):c.7337C>G (p.Ser2446Cys)
NM_017890.4(VPS13B):c.7787C>T (p.Ser2596Phe) rs145208175
NM_017890.4(VPS13B):c.7971T>A (p.Ser2657Arg) rs1563916146
NM_017890.4(VPS13B):c.8074G>A (p.Val2692Met) rs1250056053
NM_017890.4(VPS13B):c.8323A>G (p.Ile2775Val) rs1465869942
NM_017890.4(VPS13B):c.8524G>A (p.Val2842Met) rs1362379578
NM_017890.4(VPS13B):c.8645C>T (p.Pro2882Leu) rs145890213
NM_017890.4(VPS13B):c.9169G>T (p.Asp3057Tyr) rs140095832
NM_017890.4(VPS13B):c.9320A>G (p.Asp3107Gly) rs1563492523

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