ClinVar Miner

List of variants in gene LOC100287042, SLC25A19 studied for Amish lethal microcephaly

Included ClinVar conditions (2):
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Total variants: 8
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HGVS dbSNP
NM_001126121.2(SLC25A19):c.*200G>A rs62622012
NM_001126121.2(SLC25A19):c.*274C>G rs7198
NM_001126121.2(SLC25A19):c.*2T>C rs1809352
NM_001126121.2(SLC25A19):c.*437T>G rs73356384
NM_001126121.2(SLC25A19):c.797T>G (p.Met266Arg) rs148372053
NM_001126121.2(SLC25A19):c.819G>A (p.Leu273=) rs4789164
NM_021734.4(SLC25A19):c.*113G>C rs780528476
NM_021734.4(SLC25A19):c.930C>A (p.Phe310Leu) rs886053391

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