ClinVar Miner

List of variants in gene PIEZO1 reported as pathogenic for anemia (disease)

Included ClinVar conditions (281):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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NM_001142864.4(PIEZO1):c.4073G>C (p.Arg1358Pro) rs587776990
NM_001142864.4(PIEZO1):c.6058G>A (p.Ala2020Thr) rs587776989
NM_001142864.4(PIEZO1):c.6380C>T (p.Thr2127Met) rs587776991
NM_001142864.4(PIEZO1):c.6674T>G (p.Met2225Arg) rs587776987
NM_001142864.4(PIEZO1):c.7367G>A (p.Arg2456His) rs587776988
NM_001142864.4(PIEZO1):c.7477_7482CTGGAG[3] (p.2493_2494LE[3]) rs587776992

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