ClinVar Miner

List of variants in gene NDE1 reported by Genetic Services Laboratory, University of Chicago

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_017668.3(NDE1):c.837C>T (p.Tyr279=) rs17283846 0.02753
NM_017668.3(NDE1):c.572C>T (p.Thr191Ile) rs113493697 0.00935
NM_017668.3(NDE1):c.723G>T (p.Gly241=) rs570994490 0.00133
NM_017668.3(NDE1):c.872C>T (p.Ser291Phe) rs146284370 0.00053
NM_017668.3(NDE1):c.744G>A (p.Ala248=) rs1123418 0.00025
NM_017668.3(NDE1):c.302C>T (p.Ala101Val) rs201587506 0.00020
NM_017668.3(NDE1):c.741T>G (p.Pro247=) rs138534309 0.00014
NM_017668.3(NDE1):c.711C>T (p.Asp237=) rs148344039 0.00007
NM_017668.3(NDE1):c.155C>T (p.Thr52Met) rs148118152 0.00006
NM_017668.3(NDE1):c.84-5T>C rs587783872 0.00004
NM_017668.3(NDE1):c.792C>T (p.Val264=) rs1233481028 0.00001
NM_017668.3(NDE1):c.909A>T (p.Arg303Ser) rs538373943 0.00001
NM_017668.3(NDE1):c.945G>A (p.Lys315=) rs372829445 0.00001
NM_001143979.1(NDE1):c.238_240del rs797045733
NM_017668.3(NDE1):c.117C>T (p.Phe39=) rs797045732
NM_017668.3(NDE1):c.386+41C>G rs62036933
NM_017668.3(NDE1):c.623C>T (p.Ala208Val) rs587783867
NM_017668.3(NDE1):c.627G>C (p.Thr209=) rs768268553
NM_017668.3(NDE1):c.658C>T (p.Arg220Ter) rs576928842
NM_017668.3(NDE1):c.701G>A (p.Arg234His) rs138255766
NM_017668.3(NDE1):c.726G>A (p.Gly242=) rs587783869
NM_017668.3(NDE1):c.83+1G>T rs1456594953

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