List of variants in gene PIEZO2 reported as likely pathogenic for PIEZO2-related disorder

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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: 9

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HGVS	dbSNP	gnomAD frequency
NM_001378183.1(PIEZO2):c.1661T>A (p.Leu554Ter)	rs978512526	0.00003
NM_001378183.1(PIEZO2):c.170_174dup (p.Leu59fs)	rs2510473419
NM_001378183.1(PIEZO2):c.2665G>T (p.Glu889Ter)	rs2510697055
NM_001378183.1(PIEZO2):c.3157G>T (p.Glu1053Ter)	rs2510662499
NM_001378183.1(PIEZO2):c.487G>A (p.Glu163Lys)	rs2510999732
NM_001378183.1(PIEZO2):c.6584C>A (p.Ser2195Ter)	rs2510280879
NM_001378183.1(PIEZO2):c.7034C>G (p.Pro2345Arg)
NM_001378183.1(PIEZO2):c.7222T>C (p.Trp2408Arg)
NM_022068.3(PIEZO2):c.287delG	rs2510257285

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