ClinVar Miner

List of variants in gene PIEZO2 reported as likely benign by Breakthrough Genomics, Breakthrough Genomics

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_001378183.1(PIEZO2):c.4203C>G (p.His1401Gln) rs79261438 0.02303
NM_001378183.1(PIEZO2):c.7779+103G>A rs62093957 0.02164
NM_001378183.1(PIEZO2):c.918-119A>G rs72988003 0.02129
NM_001378183.1(PIEZO2):c.8161+65T>C rs62093933 0.01801
NM_001378183.1(PIEZO2):c.3124-35C>G rs111396956 0.01705
NM_001378183.1(PIEZO2):c.4915-169T>C rs78049774 0.01528
NM_001378183.1(PIEZO2):c.5715C>T (p.Tyr1905=) rs73399306 0.01434
NM_001378183.1(PIEZO2):c.5999+183T>G rs72972004 0.01378
NM_001378183.1(PIEZO2):c.8181T>C (p.Ile2727=) rs142605748 0.01373
NM_001378183.1(PIEZO2):c.3941C>T (p.Ser1314Phe) rs9959296 0.01356
NM_001378183.1(PIEZO2):c.8250A>T (p.Gly2750=) rs34134242 0.01209
NM_001378183.1(PIEZO2):c.330-56A>T rs74255529 0.01150
NM_001378183.1(PIEZO2):c.2112C>T (p.Ile704=) rs58332766 0.00959
NM_001378183.1(PIEZO2):c.1200+152G>A rs117012943 0.00952
NM_001378183.1(PIEZO2):c.1378+107A>G rs75043767 0.00915
NM_001378183.1(PIEZO2):c.1080+44T>C rs75989079 0.00765
NM_001378183.1(PIEZO2):c.6530G>C (p.Arg2177Thr) rs79992793 0.00560
NM_001378183.1(PIEZO2):c.2318+18G>C rs73943110 0.00457
NM_001378183.1(PIEZO2):c.3757+13A>G rs73389079 0.00391
NM_001378183.1(PIEZO2):c.5819C>A (p.Ala1940Asp) rs116667912 0.00372
NM_001378183.1(PIEZO2):c.7326C>T (p.Tyr2442=) rs72970080 0.00237
NM_001378183.1(PIEZO2):c.1882+40C>T rs117025760 0.00210
NM_001378183.1(PIEZO2):c.64+19C>T rs113483430 0.00172
NM_001378183.1(PIEZO2):c.4239C>T (p.Ala1413=) rs144035480 0.00171
NM_001378183.1(PIEZO2):c.6013G>A (p.Asp2005Asn) rs199842060 0.00170
NM_001378183.1(PIEZO2):c.1249G>C (p.Val417Leu) rs369473273 0.00136
NM_001378183.1(PIEZO2):c.3513C>T (p.His1171=) rs189783837 0.00121
NM_001378183.1(PIEZO2):c.241T>C (p.Leu81=) rs373387409 0.00090
NM_001378183.1(PIEZO2):c.2964T>C (p.Tyr988=) rs200998919 0.00045
NM_001378183.1(PIEZO2):c.1006G>A (p.Ala336Thr) rs368601054 0.00021
NM_001378183.1(PIEZO2):c.474G>A (p.Glu158=) rs369019214 0.00009
NM_001378183.1(PIEZO2):c.5805C>T (p.Asp1935=) rs766667512 0.00007
NM_001378183.1(PIEZO2):c.6324G>A (p.Val2108=) rs1598375836 0.00001
NM_001378183.1(PIEZO2):c.1379-20T>A rs185322783
NM_001378183.1(PIEZO2):c.3451-12A>C rs74713399
NM_001378183.1(PIEZO2):c.5598G>A (p.Thr1866=) rs78023192
NM_001378183.1(PIEZO2):c.5598G>T (p.Thr1866=) rs78023192
NM_001378183.1(PIEZO2):c.5916C>T (p.Asp1972=) rs529388684

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