ClinVar Miner

List of variants reported as pathogenic for Amish lethal microcephaly

Included ClinVar conditions (2):

Amish lethal microcephaly
Amish lethal microcephaly; Progressive demyelinating neuropathy with bilateral striatal necrosis

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001126121.2(SLC25A19):c.775-1G>C	rs372041843	0.00002
NM_001126121.2(SLC25A19):c.530G>C (p.Gly177Ala)	rs119473030	0.00001

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