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Variants search result for Homo sapiens
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31 records found for search term Hsd17b13
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
150437505CV1237879duplicationNM_178135.5(HSD17B13):c.812+2dupFATTY LIVER DISEASE, PROTECTION AGAINST [RCV002319724]|HSD17B13 POLYMORPHISM [RCV002319725]|not provided [RCV001644377]benign|protective48731024087310241Human1name , trait
15196592CV777407single nucleotide variantNM_178135.5(HSD17B13):c.451-8T>Gnot provided [RCV000956231]benign48731560787315607Humanname
155915918CV2339231single nucleotide variantNM_178135.5(HSD17B13):c.46T>A (p.Tyr16Asn)not specified [RCV004191472]uncertain significance48732279687322796Humanname
405803473CV3274157single nucleotide variantNM_178135.5(HSD17B13):c.70A>G (p.Lys24Glu)not specified [RCV004404464]uncertain significance48732277287322772Humanname
407425079CV3409341single nucleotide variantNM_178135.5(HSD17B13):c.501C>T (p.Ile167=)not provided [RCV004585272]benign48731554987315549Humanname
597773975CV3689657single nucleotide variantNM_178135.5(HSD17B13):c.47A>G (p.Tyr16Cys)not specified [RCV004928999]uncertain significance48732279587322795Humanname
329364962CV2439950single nucleotide variantNM_178135.5(HSD17B13):c.127G>A (p.Gly43Arg)not specified [RCV004260431]uncertain significance48732271587322715Humanname
405803468CV3274154single nucleotide variantNM_178135.5(HSD17B13):c.178C>G (p.Gln60Glu)not specified [RCV004404461]uncertain significance48732266487322664Humanname
597773971CV3689656single nucleotide variantNM_178135.5(HSD17B13):c.233C>T (p.Ala78Val)not specified [RCV004928998]uncertain significance48731841487318414Humanname
150474303CV1263340single nucleotide variantNM_178135.5(HSD17B13):c.778C>T (p.Pro260Ser)not provided [RCV001684862]benign48731027787310277Humanname
156140264CV2280820single nucleotide variantNM_178135.5(HSD17B13):c.361G>A (p.Ala121Thr)not specified [RCV004145081]uncertain significance48731718187317181Humanname
156271790CV2297045single nucleotide variantNM_178135.5(HSD17B13):c.532G>A (p.Gly178Arg)not specified [RCV004150966]uncertain significance48731551887315518Humanname
156091678CV2300079single nucleotide variantNM_178135.5(HSD17B13):c.791A>G (p.Asn264Ser)not specified [RCV004151280]uncertain significance48731026487310264Humanname
156045720CV2319042single nucleotide variantNM_178135.5(HSD17B13):c.808C>A (p.Gln270Lys)not specified [RCV004178126]likely benign48731024787310247Humanname
155939533CV2385694single nucleotide variantNM_178135.5(HSD17B13):c.847C>T (p.Arg283Cys)not specified [RCV004233320]uncertain significance48730527487305274Humanname
329353641CV2466980single nucleotide variantNM_178135.5(HSD17B13):c.548T>A (p.Ile183Asn)not specified [RCV004282730]uncertain significance48731550287315502Humanname
401760533CV2705969single nucleotide variantNM_178135.5(HSD17B13):c.593G>A (p.Gly198Asp)not specified [RCV004320890]uncertain significance48731392587313925Humanname
405803470CV3274155single nucleotide variantNM_178135.5(HSD17B13):c.311T>C (p.Leu104Pro)not specified [RCV004404462]uncertain significance48731833687318336Humanname
405803471CV3274156single nucleotide variantNM_178135.5(HSD17B13):c.683A>G (p.Asn228Ser)not specified [RCV004404463]uncertain significance48731383587313835Humanname
405803475CV3274158single nucleotide variantNM_178135.5(HSD17B13):c.874G>A (p.Val292Met)not specified [RCV004404465]uncertain significance48730524787305247Humanname
407464753CV3434005single nucleotide variantNM_178135.5(HSD17B13):c.863A>T (p.Gln288Leu)not specified [RCV004635160]uncertain significance48730525887305258Humanname
407464758CV3434006single nucleotide variantNM_178135.5(HSD17B13):c.572C>T (p.Ala191Val)not specified [RCV004635161]uncertain significance48731394687313946Humanname
407464763CV3434007single nucleotide variantNM_178135.5(HSD17B13):c.662T>G (p.Val221Gly)not specified [RCV004635162]uncertain significance48731385687313856Humanname
597773979CV3689658single nucleotide variantNM_178135.5(HSD17B13):c.382G>A (p.Asp128Asn)not specified [RCV004929000]uncertain significance48731716087317160Humanname
597773983CV3689659single nucleotide variantNM_178135.5(HSD17B13):c.613G>A (p.Ala205Thr)not specified [RCV004929001]uncertain significance48731390587313905Humanname
597773987CV3689660single nucleotide variantNM_178135.5(HSD17B13):c.349G>A (p.Val117Met)not specified [RCV004929002]uncertain significance48731719387317193Humanname
597773991CV3689661single nucleotide variantNM_178135.5(HSD17B13):c.826C>A (p.Arg276Ser)not specified [RCV004929003]uncertain significance48730529587305295Humanname
597773995CV3689662single nucleotide variantNM_178135.5(HSD17B13):c.761A>G (p.Lys254Arg)not specified [RCV004929004]uncertain significance48731029487310294Humanname
15113794CV709498single nucleotide variantNM_178135.5(HSD17B13):c.779C>A (p.Pro260Gln)not provided [RCV000961556]benign48731027687310276Humanname
15171891CV721105single nucleotide variantNM_178135.5(HSD17B13):c.836C>T (p.Ala279Val)not provided [RCV000883736]benign48730528587305285Humanname
15171896CV721106single nucleotide variantNM_178135.5(HSD17B13):c.716C>T (p.Thr239Ile)not provided [RCV000883737]benign48731033987310339Humanname