List of variants in gene PIEZO2 reported as likely pathogenic for Arthrogryposis, distal, with impaired proprioception and touch

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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: 22

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HGVS	dbSNP	gnomAD frequency
NM_001378183.1(PIEZO2):c.1528-1G>A	rs1555648288	0.00001
NM_001378183.1(PIEZO2):c.4264+1G>A	rs771300095	0.00001
NM_001378183.1(PIEZO2):c.5227C>T (p.Arg1743Ter)	rs886039821	0.00001
NM_001378183.1(PIEZO2):c.76C>T (p.Arg26Ter)	rs571918997	0.00001
NM_001378183.1(PIEZO2):c.10G>T (p.Glu4Ter)	rs1276813954
NM_001378183.1(PIEZO2):c.1201-2A>G	rs2510781006
NM_001378183.1(PIEZO2):c.1527+2T>C	rs2510766564
NM_001378183.1(PIEZO2):c.1577G>A (p.Trp526Ter)	rs2510758066
NM_001378183.1(PIEZO2):c.1766del (p.Phe589fs)	rs1388570121
NM_001378183.1(PIEZO2):c.2004del (p.Glu668fs)	rs1176993096
NM_001378183.1(PIEZO2):c.273_279del (p.Pro92fs)	rs2145486698
NM_001378183.1(PIEZO2):c.382G>A (p.Gly128Arg)	rs2042135430
NM_001378183.1(PIEZO2):c.3923+1G>T	rs2510637127
NM_001378183.1(PIEZO2):c.4244_4245del (p.Thr1415fs)	rs1598431052
NM_001378183.1(PIEZO2):c.4775_4778del (p.Lys1592fs)	rs2510489205
NM_001378183.1(PIEZO2):c.6055C>T (p.Arg2019Ter)	rs764171255
NM_001378183.1(PIEZO2):c.7047_7053del (p.Met2349fs)
NM_001378183.1(PIEZO2):c.7107dup (p.Leu2370fs)	rs2510272028
NM_001378183.1(PIEZO2):c.7433G>A (p.Trp2478Ter)	rs985379792
NM_001378183.1(PIEZO2):c.7434G>A (p.Trp2478Ter)	rs2510256104
NM_001378183.1(PIEZO2):c.7555G>A (p.Gly2519Arg)
NM_001378183.1(PIEZO2):c.7608dup (p.Ser2537fs)	rs2510238432

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