ClinVar Miner

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

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Total variants: 22
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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.1528-1G>A rs1555648288 0.00001
NM_001378183.1(PIEZO2):c.3249+1G>C rs1332485667 0.00001
NM_001378183.1(PIEZO2):c.329+2T>G rs1377703869 0.00001
NM_001378183.1(PIEZO2):c.4708+2T>G rs1189625999 0.00001
NM_001378183.1(PIEZO2):c.5227C>T (p.Arg1743Ter) rs886039821 0.00001
NM_001378183.1(PIEZO2):c.1378+1G>A
NM_001378183.1(PIEZO2):c.3780del (p.Cys1260fs) rs1555639568
NM_001378183.1(PIEZO2):c.3923G>A (p.Arg1308Lys)
NM_001378183.1(PIEZO2):c.4515-28_4515del rs2037268635
NM_001378183.1(PIEZO2):c.4673dup (p.Gln1559fs) rs2037200894
NM_001378183.1(PIEZO2):c.4981dup (p.Arg1661fs)
NM_001378183.1(PIEZO2):c.6427C>T (p.Arg2143Ter)
NM_001378183.1(PIEZO2):c.704-1G>T rs2144694416
NM_001378183.1(PIEZO2):c.7049T>C (p.Val2350Ala)
NM_001378183.1(PIEZO2):c.7190+1G>A rs2143679715
NM_001378183.1(PIEZO2):c.747_752delinsTTTTTTG (p.Leu253fs) rs2144693969
NM_001378183.1(PIEZO2):c.7686+1G>C rs1454800167
NM_001378183.1(PIEZO2):c.76C>T (p.Arg26Ter)
NM_001378183.1(PIEZO2):c.7779+1G>A
NM_001378183.1(PIEZO2):c.8486dup (p.Leu2829fs)
NM_001378183.1(PIEZO2):c.8492G>A (p.Arg2831Gln) rs587777452

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