ClinVar Miner

List of variants studied for amyloidosis by Baylor Genetics

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_206937.2(LIG4):c.2422T>C (p.Ser808Pro) rs1284344984 0.00001
NM_198252.3(GSN):c.181C>T (p.Leu61Phe)

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