ClinVar Miner

List of variants in gene PIEZO2 reported as pathogenic for not provided

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Total variants: 31
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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.433C>T (p.Gln145Ter) rs1359016274 0.00001
NM_001378183.1(PIEZO2):c.5227C>T (p.Arg1743Ter) rs886039821 0.00001
GRCh37/hg19 18p11.21(chr18:11109971-11176380)x1
NM_001378183.1(PIEZO2):c.1065G>A (p.Trp355Ter)
NM_001378183.1(PIEZO2):c.1080+1G>A rs2040024535
NM_001378183.1(PIEZO2):c.1149dup (p.Arg384fs) rs2144298764
NM_001378183.1(PIEZO2):c.1444del (p.Arg482fs) rs2144239123
NM_001378183.1(PIEZO2):c.2134A>G (p.Met712Val) rs587777453
NM_001378183.1(PIEZO2):c.2683_2696del (p.Tyr895fs) rs2144002934
NM_001378183.1(PIEZO2):c.3069G>A (p.Met1023Ile)
NM_001378183.1(PIEZO2):c.3585C>A (p.Cys1195Ter) rs571800639
NM_001378183.1(PIEZO2):c.3707G>A (p.Trp1236Ter) rs2143843115
NM_001378183.1(PIEZO2):c.3895_3896del (p.Asn1299fs)
NM_001378183.1(PIEZO2):c.4049del (p.Phe1350fs)
NM_001378183.1(PIEZO2):c.4510C>T (p.Arg1504Ter) rs1023399538
NM_001378183.1(PIEZO2):c.4798C>T (p.Arg1600Ter) rs886039822
NM_001378183.1(PIEZO2):c.5257-1G>A rs1555630216
NM_001378183.1(PIEZO2):c.5618C>A (p.Ser1873Ter)
NM_001378183.1(PIEZO2):c.5771del (p.Pro1924fs) rs2035546031
NM_001378183.1(PIEZO2):c.5851_5854del (p.Glu1951fs) rs2143784912
NM_001378183.1(PIEZO2):c.5960del (p.Leu1987fs) rs1057519425
NM_001378183.1(PIEZO2):c.6614del (p.Thr2205fs) rs2035219369
NM_001378183.1(PIEZO2):c.6721C>T (p.Gln2241Ter) rs2035163592
NM_001378183.1(PIEZO2):c.7807G>T (p.Glu2603Ter) rs2034210482
NM_001378183.1(PIEZO2):c.8023C>T (p.Arg2675Ter) rs576824464
NM_001378183.1(PIEZO2):c.8395C>G (p.Arg2799Gly) rs587777451
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.8514AGA[2] (p.Glu2840del) rs1555621138
NM_001378183.1(PIEZO2):c.8576G>A (p.Trp2859Ter)

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