ClinVar Miner

List of variants in gene MIF4GD-DT, SLC25A19 studied for Amish lethal microcephaly

Included ClinVar conditions (2):
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Gene type:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001126121.2(SLC25A19):c.*2T>C rs1809352 0.87805
NM_001126121.2(SLC25A19):c.*274C>G rs7198 0.53096
NM_001126121.2(SLC25A19):c.819G>A (p.Leu273=) rs4789164 0.52943
NM_001126121.2(SLC25A19):c.*437T>G rs73356384 0.05711
NM_001126121.2(SLC25A19):c.*200G>A rs62622012 0.00766
NM_001126121.2(SLC25A19):c.*96G>C rs143419896 0.00335
NM_001126121.2(SLC25A19):c.*384C>T rs192494814 0.00282
NM_001126121.2(SLC25A19):c.797T>G (p.Met266Arg) rs148372053 0.00204
NM_001126121.2(SLC25A19):c.842T>G (p.Phe281Cys) rs138376525 0.00061
NM_001126121.2(SLC25A19):c.*301C>T rs543638381 0.00052
NM_001126121.2(SLC25A19):c.779G>A (p.Arg260Gln) rs200977389 0.00006
NM_001126121.2(SLC25A19):c.775-1G>C rs372041843 0.00002
NM_001126121.2(SLC25A19):c.*292A>G rs1004218259 0.00001
NM_001126121.2(SLC25A19):c.*113G>C rs780528476
NM_001126121.2(SLC25A19):c.*164G>A rs371154305
NM_001126121.2(SLC25A19):c.*408C>T rs2077766048

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