ClinVar Miner

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

Included ClinVar conditions (3):
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Gene type:
ClinVar version:
Total variants: 21
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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.1549_1550insC (p.Ser517fs)
NM_001378183.1(PIEZO2):c.1550_1552delinsCGAA (p.Ser517fs) rs1057519426
NM_001378183.1(PIEZO2):c.1882+1G>A
NM_001378183.1(PIEZO2):c.1924G>T (p.Glu642Ter) rs1598482405
NM_001378183.1(PIEZO2):c.2073C>A (p.Cys691Ter)
NM_001378183.1(PIEZO2):c.2170-2A>C rs1598479779
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.3487C>T (p.Arg1163Ter) rs1203151992
NM_001378183.1(PIEZO2):c.4775_4778del (p.Lys1592fs)
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.5257-1G>A rs1555630216
NM_001378183.1(PIEZO2):c.5960del (p.Leu1987fs) rs1057519425
NM_001378183.1(PIEZO2):c.6234G>A (p.Trp2078Ter) rs1555627917
NM_001378183.1(PIEZO2):c.6828-8_6829del rs1567958264
NM_001378183.1(PIEZO2):c.704-2A>G rs2144694433
NM_001378183.1(PIEZO2):c.7186G>T (p.Glu2396Ter)
NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His) rs587777450

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