ClinVar Miner

List of variants studied for Amish lethal microcephaly by Genome-Nilou Lab

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001126121.2(SLC25A19):c.289-26G>A rs4788882 0.99234
NM_001126121.2(SLC25A19):c.339T>C (p.Tyr113=) rs7213318 0.93459
NM_001126121.2(SLC25A19):c.*2T>C rs1809352 0.87805
NM_001126121.2(SLC25A19):c.819G>A (p.Leu273=) rs4789164 0.52943

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