ClinVar Miner

List of variants studied for Gordon syndrome

Included ClinVar conditions (4):
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ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_001378183.1(PIEZO2):c.2305C>T (p.Leu769=) rs6505592 0.84626
NM_001378183.1(PIEZO2):c.2492+48del rs3830641 0.84419
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 0.70798
NM_001378183.1(PIEZO2):c.4514+32C>T rs8093389 0.64387
NM_001378183.1(PIEZO2):c.4290T>A (p.Leu1430=) rs8096037 0.63926
NM_001378183.1(PIEZO2):c.7190+29A>G rs11661737 0.36619
NM_001378183.1(PIEZO2):c.6976-47G>C rs868525 0.36451
NM_001378183.1(PIEZO2):c.7349+7C>T rs3748422 0.36363
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 0.27928
NM_001378183.1(PIEZO2):c.7215C>T (p.Ala2405=) rs3748421 0.27525
NM_001378183.1(PIEZO2):c.5589C>T (p.Ser1863=) rs7227022 0.26688
NM_001378183.1(PIEZO2):c.7349+31A>C rs3748423 0.25652
NM_001378183.1(PIEZO2):c.2947-36G>A rs7507093 0.20120
NM_001378183.1(PIEZO2):c.6031G>C (p.Glu2011Gln) rs4796901 0.20035
NM_001378183.1(PIEZO2):c.6012C>T (p.Asp2004=) rs16975235 0.01635
NM_001378183.1(PIEZO2):c.3941C>T (p.Ser1314Phe) rs9959296 0.01461
NM_001378183.1(PIEZO2):c.3757+13A>G rs73389079 0.00391
NM_001378183.1(PIEZO2):c.6475G>C (p.Glu2159Gln) rs200276831 0.00076
NM_001378183.1(PIEZO2):c.4148C>T (p.Thr1383Met) rs777349822 0.00003
NM_001378183.1(PIEZO2):c.71C>T (p.Ala24Val) rs759000106 0.00002
NM_001378183.1(PIEZO2):c.1159A>G (p.Ser387Gly)
NM_001378183.1(PIEZO2):c.1484T>G (p.Phe495Cys)
NM_001378183.1(PIEZO2):c.1741G>T (p.Gly581Ter) rs990982191
NM_001378183.1(PIEZO2):c.2170-18del rs11468237
NM_001378183.1(PIEZO2):c.2170-19_2170-18del rs11468237
NM_001378183.1(PIEZO2):c.2725G>C (p.Glu909Gln)
NM_001378183.1(PIEZO2):c.3193G>T (p.Asp1065Tyr)
NM_001378183.1(PIEZO2):c.350_351del (p.Gly117fs)
NM_001378183.1(PIEZO2):c.4460C>T (p.Ala1487Val)
NM_001378183.1(PIEZO2):c.4588C>T (p.Pro1530Ser)
NM_001378183.1(PIEZO2):c.5896C>T (p.Arg1966Cys)
NM_001378183.1(PIEZO2):c.6614del (p.Thr2205fs) rs2035219369
NM_001378183.1(PIEZO2):c.7037T>G (p.Phe2346Cys)
NM_001378183.1(PIEZO2):c.771G>A (p.Trp257Ter) rs2041679279
NM_001378183.1(PIEZO2):c.7807G>T (p.Glu2603Ter) rs2034210482
NM_001378183.1(PIEZO2):c.7953-9del rs5823112
NM_001378183.1(PIEZO2):c.8081+7G>C rs912560415
NM_001378183.1(PIEZO2):c.8140C>T (p.Pro2714Ser)
NM_001378183.1(PIEZO2):c.8386A>G (p.Lys2796Glu) rs2033787153
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.8492G>A (p.Arg2831Gln) rs587777452
NM_001378183.1(PIEZO2):c.8514AGA[2] (p.Glu2840del) rs1555621138
NM_001378183.1(PIEZO2):c.8577_8584del (p.Trp2859_Glu2862delinsTer) rs724159993

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