ClinVar Miner

List of variants reported as pathogenic for neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy by OMIM

Included ClinVar conditions (1):

Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_138572.3(TAF8):c.489G>A (p.Pro163=)	rs554917914	0.00004
NM_138572.3(TAF8):c.781-1G>A	rs371261267	0.00004
NM_138572.3(TAF8):c.45+4A>G	rs2127446222

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