ClinVar Miner

List of variants studied for ITM2B amyloidosis

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_021999.5(ITM2B):c.50A>G (p.Lys17Arg) rs1951647457
NM_021999.5(ITM2B):c.787_796dup (p.Ser266fs) rs606231166
NM_021999.5(ITM2B):c.799T>A (p.Ter267Arg) rs104894417
NM_021999.5(ITM2B):c.800G>T (p.Ter267Leu) rs2137997888
NM_021999.5(ITM2B):c.92C>G (p.Pro31Arg) rs150336652

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