ClinVar Miner

List of variants studied for amyloidosis by Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_000508.5(FGA):c.2350C>T (p.Gln784Ter) rs148824832

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