ClinVar Miner

List of variants studied for infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly by Baylor Genetics

Included ClinVar conditions (1):
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_004268.5(MED17):c.1449C>G (p.Gly483=) rs61754525 0.00004
NM_004268.5(MED17):c.490G>A (p.Ala164Thr) rs369606983 0.00002
NM_004268.5(MED17):c.1298A>T (p.Lys433Ile) rs760909439 0.00001
NM_004268.5(MED17):c.302A>G (p.Asn101Ser) rs775443807 0.00001
NM_004268.5(MED17):c.1223C>G (p.Ser408Trp) rs140719424
NM_004268.5(MED17):c.1747C>T (p.Arg583Cys)

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