ClinVar Miner

List of variants in gene PIEZO2 reported by OMIM

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001378183.1(PIEZO2):c.5227C>T (p.Arg1743Ter) rs886039821 0.00001
NM_001378183.1(PIEZO2):c.1384C>T (p.Arg462Ter) rs1568069621
NM_001378183.1(PIEZO2):c.1550_1552delinsCGAA (p.Ser517fs) rs1057519426
NM_001378183.1(PIEZO2):c.2134A>G (p.Met712Val) rs587777453
NM_001378183.1(PIEZO2):c.2404A>T (p.Ile802Phe) rs587777076
NM_001378183.1(PIEZO2):c.2783C>G (p.Ser928Ter) rs886039824
NM_001378183.1(PIEZO2):c.3095_3105del (p.Pro1032fs) rs1057519626
NM_001378183.1(PIEZO2):c.4798C>T (p.Arg1600Ter) rs886039822
NM_001378183.1(PIEZO2):c.5228G>C (p.Arg1743Pro) rs886039823
NM_001378183.1(PIEZO2):c.5960del (p.Leu1987fs) rs1057519425
NM_001378183.1(PIEZO2):c.8395C>T (p.Arg2799Cys) rs587777451
NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His) rs587777450
NM_001378183.1(PIEZO2):c.8492G>A (p.Arg2831Gln) rs587777452
NM_001378183.1(PIEZO2):c.8492G>C (p.Arg2831Pro) rs587777452
NM_001378183.1(PIEZO2):c.8492G>T (p.Arg2831Leu) rs587777452
NM_001378183.1(PIEZO2):c.8514AGA[2] (p.Glu2840del) rs1555621138
NM_001378183.1(PIEZO2):c.8554T>C (p.Ser2852Pro) rs587777454
NM_001378183.1(PIEZO2):c.8577_8584del (p.Trp2859_Glu2862delinsTer) rs724159993

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