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19 records found for search term Efhd2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
329376055CV2467499single nucleotide variantNM_024329.6(EFHD2):c.13G>A (p.Glu5Lys)not specified [RCV004287102]uncertain significance11540998415409984Humanname
156342527CV2222310single nucleotide variantNM_024329.6(EFHD2):c.74C>T (p.Pro25Leu)not specified [RCV004105324]uncertain significance11541004515410045Humanname
598167427CV3964870single nucleotide variantNM_024329.6(EFHD2):c.67G>A (p.Glu23Lys)not specified [RCV005330046]uncertain significance11541003815410038Humanname
155926854CV2208305single nucleotide variantNM_024329.6(EFHD2):c.131C>T (p.Ala44Val)not specified [RCV004088743]uncertain significance11541010215410102Humanname
156048436CV2315769single nucleotide variantNM_024329.6(EFHD2):c.116G>A (p.Gly39Glu)not specified [RCV004169773]uncertain significance11541008715410087Humanname
156396627CV2322480single nucleotide variantNM_024329.6(EFHD2):c.110C>T (p.Ala37Val)not specified [RCV004180601]uncertain significance11541008115410081Humanname
407497844CV3441763single nucleotide variantNM_024329.6(EFHD2):c.133G>A (p.Ala45Thr)not specified [RCV004622310]uncertain significance11541010415410104Humanname
598167416CV3964868single nucleotide variantNM_024329.6(EFHD2):c.121C>T (p.Pro41Ser)not specified [RCV005330044]uncertain significance11541009215410092Humanname
598167422CV3964869single nucleotide variantNM_024329.6(EFHD2):c.208G>C (p.Gly70Arg)not specified [RCV005330045]uncertain significance11541017915410179Humanname
598167438CV3964872single nucleotide variantNM_024329.6(EFHD2):c.211G>A (p.Glu71Lys)not specified [RCV005330048]uncertain significance11541018215410182Humanname
156360343CV2269019single nucleotide variantNM_024329.6(EFHD2):c.575G>A (p.Ser192Asn)not specified [RCV004128415]uncertain significance11542726815427268Humanname
155953960CV2379106single nucleotide variantNM_024329.6(EFHD2):c.527G>A (p.Arg176His)not specified [RCV004235905]uncertain significance11542722015427220Humanname
329369946CV2461285single nucleotide variantNM_024329.6(EFHD2):c.526C>T (p.Arg176Cys)not specified [RCV004267461]uncertain significance11542721915427219Humanname
401757665CV2707905single nucleotide variantNM_024329.6(EFHD2):c.598G>A (p.Ala200Thr)not specified [RCV004309171]uncertain significance11542859915428599Humanname
401721521CV2710005single nucleotide variantNM_024329.6(EFHD2):c.597G>C (p.Gln199His)not specified [RCV004315070]uncertain significance11542859815428598Humanname
405715916CV3241655single nucleotide variantNM_024329.6(EFHD2):c.334A>G (p.Ile112Val)not specified [RCV004377392]uncertain significance11542589615425896Humanname
597645916CV3664327single nucleotide variantNM_024329.6(EFHD2):c.452G>A (p.Arg151Gln)not specified [RCV004909889]uncertain significance11542601415426014Humanname
597645931CV3664329single nucleotide variantNM_024329.6(EFHD2):c.704T>C (p.Leu235Pro)not specified [RCV004909891]uncertain significance11542870515428705Humanname
598167433CV3964871single nucleotide variantNM_024329.6(EFHD2):c.517G>A (p.Val173Met)not specified [RCV005330047]uncertain significance11542721015427210Humanname