List of variants in gene PIEZO1 reported as pathogenic by OMIM

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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: 14

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HGVS	dbSNP	gnomAD frequency
NM_001142864.4(PIEZO1):c.7174G>A (p.Glu2392Lys)	rs528448732	0.00048
NM_001142864.4(PIEZO1):c.6380C>T (p.Thr2127Met)	rs587776991	0.00004
NM_001142864.4(PIEZO1):c.6511G>T (p.Val2171Phe)	rs370296725	0.00003
NM_001142864.4(PIEZO1):c.3796+1G>A	rs869025599	0.00001
NM_001142864.4(PIEZO1):c.7289C>T (p.Pro2430Leu)	rs869025601	0.00001
NM_001142864.2(PIEZO1):[c.3350C>T;c.6059C>T]
NM_001142864.4(PIEZO1):c.4073G>C (p.Arg1358Pro)	rs587776990
NM_001142864.4(PIEZO1):c.4888G>T (p.Glu1630Ter)	rs869025597
NM_001142864.4(PIEZO1):c.5289C>G (p.Tyr1763Ter)	rs72811487
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.6682C>T (p.Gln2228Ter)	rs869025598
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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