ClinVar Miner

List of variants in gene PIEZO1 reported by Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital

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Gene type:
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001142864.4(PIEZO1):c.7529C>T (p.Pro2510Leu) rs61745086 0.00748
NM_001142864.4(PIEZO1):c.3602C>T (p.Thr1201Met) rs372935580 0.00080
NM_001142864.4(PIEZO1):c.6905G>A (p.Arg2302His) rs200555745 0.00058
NM_001142864.4(PIEZO1):c.5312C>T (p.Pro1771Leu) rs202099525 0.00048
NM_001142864.4(PIEZO1):c.7471C>T (p.Arg2491Trp) rs201746476 0.00030
NM_001142864.4(PIEZO1):c.5627G>A (p.Arg1876Lys) rs201967733 0.00025
NM_001142864.4(PIEZO1):c.5284C>T (p.Arg1762Cys) rs1184084921 0.00001
NM_001142864.4(PIEZO1):c.4246G>A (p.Gly1416Arg)
NM_001142864.4(PIEZO1):c.4957C>T (p.Arg1653Cys)
NM_001142864.4(PIEZO1):c.5181G>C (p.Lys1727Asn)
NM_001142864.4(PIEZO1):c.5296A>C (p.Lys1766Gln)
NM_001142864.4(PIEZO1):c.5975C>T (p.Thr1992Met)
NM_001142864.4(PIEZO1):c.6058G>A (p.Ala2020Thr) rs587776989
NM_001142864.4(PIEZO1):c.6835C>T (p.Arg2279Cys)
NM_001142864.4(PIEZO1):c.7367G>A (p.Arg2456His) rs587776988
NM_001142864.4(PIEZO1):c.7447G>A (p.Asp2483Asn)
NM_001142864.4(PIEZO1):c.7477CTGGAG[3] (p.2493LE[3]) rs587776992

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