ClinVar Miner

List of variants reported as pathogenic for AL amyloidosis

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter) rs104894419 0.00007
FGFR3, FGFR3/IGH FUSION
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu) rs78311289
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_004985.5(KRAS):c.35G>C (p.Gly12Ala) rs121913529
NM_206937.2(LIG4):c.1271_1275del (p.Lys424fs) rs772226399

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