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30 records found for search term Hscb
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
21070274CV789806single nucleotide variantNM_172002.5(HSCB):c.-37C>Tnot provided [RCV000986214]likely benign222874205928742059Humanname
401744090CV2680698single nucleotide variantNM_172002.5(HSCB):c.14G>C (p.Arg5Thr)not specified [RCV004291311]uncertain significance222874210928742109Humanname
21070275CV789807single nucleotide variantNM_172002.5(HSCB):c.13A>G (p.Arg5Gly)not provided [RCV000986215]likely benign222874210828742108Humanname
150473029CV1261968duplicationNM_172002.5(HSCB):c.259dup (p.Thr87fs)Anemia, sideroblastic, 5 [RCV001684647]pathogenic222874390328743904Human1name
156026492CV2242358single nucleotide variantNM_172002.5(HSCB):c.68G>A (p.Arg23Lys)not specified [RCV004111365]uncertain significance222874216328742163Humanname
597695587CV3689624single nucleotide variantNM_172002.5(HSCB):c.39G>C (p.Trp13Cys)not specified [RCV004928972]uncertain significance222874213428742134Humanname
156079360CV2289558single nucleotide variantNM_172002.5(HSCB):c.188C>T (p.Ala63Val)not specified [RCV004154275]uncertain significance222874228328742283Humanname
329349521CV2443609single nucleotide variantNM_172002.5(HSCB):c.242G>A (p.Arg81His)not specified [RCV004262430]uncertain significance222874388728743887Humanname
401859043CV2792621single nucleotide variantNM_172002.5(HSCB):c.194A>G (p.Gln65Arg)not specified [RCV004363644]uncertain significance222874228928742289Humanname
407458165CV3433988single nucleotide variantNM_172002.5(HSCB):c.296G>A (p.Arg99His)Anemia, sideroblastic, 5 [RCV004759433]|not specified [RCV004633166]uncertain significance222874394128743941Human1name
407483830CV3433990single nucleotide variantNM_172002.5(HSCB):c.121T>C (p.Cys41Arg)not specified [RCV004633168]uncertain significance222874221628742216Humanname
408380849CV3521691single nucleotide variantNM_172002.5(HSCB):c.145G>T (p.Gly49Cys)Anemia, sideroblastic, 5 [RCV004764490]uncertain significance222874224028742240Human1name
408381495CV3526213single nucleotide variantNM_172002.5(HSCB):c.124T>G (p.Trp42Gly)Anemia, sideroblastic, 5 [RCV004771645]uncertain significance222874221928742219Human1name
598255567CV3972052single nucleotide variantNM_172002.5(HSCB):c.238A>C (p.Asn80His)not specified [RCV005346584]uncertain significance222874388328743883Humanname
156030901CV2202567single nucleotide variantNM_172002.5(HSCB):c.604G>A (p.Ala202Thr)not specified [RCV004080850]uncertain significance222875127628751276Humanname
156053372CV2388526single nucleotide variantNM_172002.5(HSCB):c.677A>G (p.Glu226Gly)not specified [RCV004237377]uncertain significance222875713828757138Humanname
329391170CV2452116single nucleotide variantNM_172002.5(HSCB):c.559A>G (p.Ile187Val)not specified [RCV004278834]uncertain significance222874599928745999Humanname
329397646CV2456442single nucleotide variantNM_172002.5(HSCB):c.654G>T (p.Met218Ile)not specified [RCV004275596]uncertain significance222875711528757115Humanname
401730105CV2683951single nucleotide variantNM_172002.5(HSCB):c.703C>T (p.Leu235Phe)not specified [RCV004286501]uncertain significance222875716428757164Humanname
401760371CV2709810single nucleotide variantNM_172002.5(HSCB):c.682A>G (p.Ile228Val)not specified [RCV004320785]uncertain significance222875714328757143Humanname
401857563CV2768416single nucleotide variantNM_172002.5(HSCB):c.322C>G (p.Gln108Glu)not specified [RCV004344309]uncertain significance222874396728743967Humanname
405803391CV3274112single nucleotide variantNM_172002.5(HSCB):c.389C>A (p.Thr130Asn)not specified [RCV004404419]uncertain significance222874467028744670Humanname
405803393CV3274113single nucleotide variantNM_172002.5(HSCB):c.517G>A (p.Ala173Thr)not specified [RCV004404420]uncertain significance222874595728745957Humanname
405803395CV3274114single nucleotide variantNM_172002.5(HSCB):c.650A>G (p.Lys217Arg)not specified [RCV004404421]uncertain significance222875711128757111Humanname
405803397CV3274115single nucleotide variantNM_172002.5(HSCB):c.656G>C (p.Arg219Thr)not specified [RCV004404422]uncertain significance222875711728757117Humanname
407458167CV3433989single nucleotide variantNM_172002.5(HSCB):c.684C>G (p.Ile228Met)not specified [RCV004633167]uncertain significance222875714528757145Humanname
598255574CV3972053single nucleotide variantNM_172002.5(HSCB):c.338A>G (p.Glu113Gly)not specified [RCV005346585]uncertain significance222874461928744619Humanname
598255579CV3972054single nucleotide variantNM_172002.5(HSCB):c.379G>A (p.Ala127Thr)not specified [RCV005346586]uncertain significance222874466028744660Humanname
598255584CV3972055single nucleotide variantNM_172002.5(HSCB):c.642T>G (p.Ile214Met)not specified [RCV005346587]uncertain significance222875710328757103Humanname
598205519CV3972056single nucleotide variantNM_172002.5(HSCB):c.577A>G (p.Lys193Glu)not specified [RCV005337622]uncertain significance222875124928751249Humanname