List of variants in gene PIEZO1 reported as pathogenic for anemia

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001142864.4(PIEZO1):c.6380C>T (p.Thr2127Met)	rs587776991	0.00004
NM_001142864.2(PIEZO1):[c.3350C>T;c.6059C>T]
NM_001142864.4(PIEZO1):c.307C>T (p.Arg103Ter)	rs759026521
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.6674T>G (p.Met2225Arg)	rs587776987
NM_001142864.4(PIEZO1):c.7367G>A (p.Arg2456His)	rs587776988
NM_001142864.4(PIEZO1):c.7477CTGGAG[3] (p.2493LE[3])	rs587776992

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