ClinVar Miner

List of variants in gene VPS13B reported by CeGaT Praxis fuer Humangenetik Tuebingen

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Gene type:
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Total variants: 23
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HGVS dbSNP
GRCh37/hg19 8q22.2(chr8:100050651-100123507)x1
GRCh37/hg19 8q22.2(chr8:100587886-100589861)x1
NM_015243.2(VPS13B):c.1002T>G (p.Tyr334Ter) rs1057519182
NM_015243.2(VPS13B):c.1463C>T (p.Thr488Met) rs150783688
NM_015243.2(VPS13B):c.1559A>G (p.His520Arg) rs143205296
NM_015243.2(VPS13B):c.1639A>G (p.Thr547Ala) rs142971568
NM_015243.2(VPS13B):c.1700G>A (p.Gly567Glu) rs141046414
NM_015243.2(VPS13B):c.2075G>A (p.Arg692Gln) rs371500701
NM_015243.2(VPS13B):c.502G>A (p.Val168Ile) rs750201290
NM_015243.2(VPS13B):c.78A>G (p.Leu26=) rs745980143
NM_015243.2(VPS13B):c.826C>T (p.Arg276Cys) rs1297259725
NM_017890.4(VPS13B):c.11413G>T (p.Val3805Leu) rs138565077
NM_017890.4(VPS13B):c.2539C>A (p.Pro847Thr) rs774142530
NM_017890.4(VPS13B):c.2704A>G (p.Lys902Glu) rs149531438
NM_017890.4(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485
NM_017890.4(VPS13B):c.3516A>G (p.Thr1172=) rs118158347
NM_017890.4(VPS13B):c.3662C>A (p.Pro1221His) rs757707584
NM_017890.4(VPS13B):c.5513_5527del (p.Asp1838_Thr1842del) rs1057519183
NM_017890.4(VPS13B):c.7967C>T (p.Ala2656Val) rs768459862
NM_017890.4(VPS13B):c.8327T>C (p.Leu2776Pro) rs1563488848
NM_017890.4(VPS13B):c.8978A>G (p.Asn2993Ser) rs28940272
NM_017890.4(VPS13B):c.9667C>T (p.Arg3223Trp) rs149842139
NM_017890.4(VPS13B):c.9720C>T (p.Leu3240=) rs373968888

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