List of variants in gene PIEZO1 reported as pathogenic for not provided

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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: 17

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HGVS	dbSNP	gnomAD frequency
NM_001142864.4(PIEZO1):c.4453C>T (p.Gln1485Ter)	rs1235747033	0.00002
NM_001142864.4(PIEZO1):c.3331C>T (p.Gln1111Ter)	rs1161335800	0.00001
NM_001142864.4(PIEZO1):c.3796+1G>A	rs869025599	0.00001
NM_001142864.4(PIEZO1):c.145C>T (p.Arg49Ter)
NM_001142864.4(PIEZO1):c.3373C>T (p.Gln1125Ter)
NM_001142864.4(PIEZO1):c.3585C>A (p.Tyr1195Ter)
NM_001142864.4(PIEZO1):c.4275_4278del (p.Ser1425fs)	rs1904304634
NM_001142864.4(PIEZO1):c.4666C>T (p.Gln1556Ter)
NM_001142864.4(PIEZO1):c.5289C>G (p.Tyr1763Ter)	rs72811487
NM_001142864.4(PIEZO1):c.5404-1G>C	rs2142764905
NM_001142864.4(PIEZO1):c.5632_5633delinsG (p.Lys1878fs)	rs1201505647
NM_001142864.4(PIEZO1):c.6019A>C (p.Met2007Leu)
NM_001142864.4(PIEZO1):c.6058G>A (p.Ala2020Thr)	rs587776989
NM_001142864.4(PIEZO1):c.6073_6074del (p.Lys2025fs)
NM_001142864.4(PIEZO1):c.6616C>T (p.Gln2206Ter)	rs2142751200
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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