ClinVar Miner

List of variants studied for neuromuscular junction disease by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001171613.2(PREPL):c.1244T>C (p.Leu415Ser) rs1430753619 0.00001
NM_020549.5(CHAT):c.1211C>T (p.Ala404Val) rs192592698 0.00001
NM_020549.5(CHAT):c.506T>C (p.Phe169Ser) rs776499844

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