ClinVar Miner

List of variants studied for amyotrophic lateral sclerosis type 19 by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_005235.3(ERBB4):c.2525G>A (p.Arg842Gln)
NM_005235.3(ERBB4):c.3305T>C (p.Phe1102Ser) rs2125319546
NM_005235.3(ERBB4):c.3878G>A (p.Gly1293Asp)

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