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Variants search result for Homo sapiens
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21 records found for search term Amtn
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405275921CV3193145single nucleotide variantNM_212557.4(AMTN):c.-7C>TAMTN-related disorder [RCV003974311]benign47051877170518771Humanname , trait , alternate_id
405292102CV3207847single nucleotide variantNM_212557.4(AMTN):c.205-7C>TAMTN-related disorder [RCV003929523]benign47052486570524865Humanname , trait , alternate_id
156193821CV2351851single nucleotide variantNM_212557.4(AMTN):c.11C>T (p.Thr4Met)not specified [RCV004197995]likely benign47051878870518788Humanname
156289720CV2333210single nucleotide variantNM_212557.4(AMTN):c.73G>A (p.Gly25Arg)not specified [RCV004194497]uncertain significance47052277370522773Humanname
405284264CV3196684single nucleotide variantNM_212557.4(AMTN):c.43C>T (p.Arg15Trp)AMTN-related disorder [RCV003979586]benign47051882070518820Humanname , trait , alternate_id
597631095CV3692852single nucleotide variantNM_212557.4(AMTN):c.79C>T (p.Pro27Ser)not specified [RCV004939628]uncertain significance47052277970522779Humanname
156049721CV2271822single nucleotide variantNM_212557.4(AMTN):c.244C>A (p.His82Asn)not specified [RCV004130656]uncertain significance47052491170524911Humanname
401736247CV2688740single nucleotide variantNM_212557.4(AMTN):c.251T>G (p.Leu84Trp)not specified [RCV004303771]uncertain significance47052491870524918Humanname
401749668CV2719360single nucleotide variantNM_212557.4(AMTN):c.288C>A (p.His96Gln)not specified [RCV004324990]likely benign47052495570524955Humanname
401746451CV2731803single nucleotide variantNM_212557.4(AMTN):c.292C>T (p.His98Tyr)not specified [RCV004333056]uncertain significance47052495970524959Humanname
405274745CV3209090single nucleotide variantNM_212557.4(AMTN):c.263G>A (p.Gly88Glu)AMTN-related disorder [RCV003951839]likely benign47052493070524930Humanname , trait , alternate_id
405287182CV3210522single nucleotide variantNM_212557.4(AMTN):c.148T>C (p.Ser50Pro)AMTN-related disorder [RCV003924307]benign47052387770523877Humanname , trait , alternate_id
407472857CV3457074single nucleotide variantNM_212557.4(AMTN):c.233G>A (p.Gly78Asp)not specified [RCV004637735]uncertain significance47052490070524900Humanname
156237545CV2206915single nucleotide variantNM_212557.4(AMTN):c.562G>T (p.Ala188Ser)not specified [RCV004083582]uncertain significance47053124370531243Humanname
155975964CV2328003single nucleotide variantNM_212557.4(AMTN):c.463G>A (p.Ala155Thr)not specified [RCV004179312]uncertain significance47053114470531144Humanname
156097095CV2375525single nucleotide variantNM_212557.4(AMTN):c.578G>A (p.Ser193Asn)not specified [RCV004226031]uncertain significance47053125970531259Humanname
401730749CV2711475single nucleotide variantNM_212557.4(AMTN):c.581C>A (p.Thr194Lys)not specified [RCV004306796]uncertain significance47053126270531262Humanname
597631090CV3692847single nucleotide variantNM_212557.4(AMTN):c.470G>A (p.Gly157Glu)not specified [RCV004939627]uncertain significance47053115170531151Humanname
598218063CV3895439single nucleotide variantNM_212557.4(AMTN):c.512G>A (p.Arg171His)Amelogenesis imperfecta, type 3A [RCV005360313]uncertain significance47053119370531193Human1name
15113668CV709435single nucleotide variantNM_212557.4(AMTN):c.530G>T (p.Gly177Val)AMTN-related disorder [RCV003978376]|not provided [RCV000961533]benign47053121170531211Human1name , trait , alternate_id
13210840CV424936indelNM_212557.4(AMTN):c.54+1348_330+98delinsCTCAAmelogenesis imperfecta type 3B [RCV000496968]pathogenic47052017970528856Humanname