ClinVar Miner

List of variants in gene PIEZO2 reported as benign for Gordon syndrome

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001378183.1(PIEZO2):c.2305C>T (p.Leu769=) rs6505592 0.84859
NM_001378183.1(PIEZO2):c.2492+48del rs3830641 0.84666
NM_001378183.1(PIEZO2):c.4708+18C>T rs5024299 0.83716
NM_001378183.1(PIEZO2):c.3036A>G (p.Thr1012=) rs7227167 0.83322
NM_001378183.1(PIEZO2):c.3867C>T (p.Asn1289=) rs7407105 0.81713
NM_001378183.1(PIEZO2):c.3451-28T>C rs2865119 0.81541
NM_001378183.1(PIEZO2):c.3081C>T (p.Leu1027=) rs7241380 0.78175
NM_001378183.1(PIEZO2):c.7952+33C>T rs487037 0.71189
NM_001378183.1(PIEZO2):c.4290T>A (p.Leu1430=) rs8096037 0.63926
NM_001378183.1(PIEZO2):c.4514+32C>T rs8093389 0.63523
NM_001378183.1(PIEZO2):c.7190+29A>G rs11661737 0.36222
NM_001378183.1(PIEZO2):c.6976-47G>C rs868525 0.36074
NM_001378183.1(PIEZO2):c.7349+7C>T rs3748422 0.35979
NM_001378183.1(PIEZO2):c.4135G>A (p.Val1379Ile) rs7234309 0.30463
NM_001378183.1(PIEZO2):c.7035G>A (p.Pro2345=) rs2277860 0.29299
NM_001378183.1(PIEZO2):c.1379-47T>C rs56112279 0.27943
NM_001378183.1(PIEZO2):c.1528-41T>C rs6505594 0.27833
NM_001378183.1(PIEZO2):c.7215C>T (p.Ala2405=) rs3748421 0.27315
NM_001378183.1(PIEZO2):c.5589C>T (p.Ser1863=) rs7227022 0.26688
NM_001378183.1(PIEZO2):c.7349+31A>C rs3748423 0.25561
NM_001378183.1(PIEZO2):c.2947-36G>A rs7507093 0.20716
NM_001378183.1(PIEZO2):c.6031G>C (p.Glu2011Gln) rs4796901 0.20035
NM_001378183.1(PIEZO2):c.2170-19_2170-18del rs11468237
NM_001378183.1(PIEZO2):c.7953-9del rs5823112

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