ClinVar Miner

List of variants studied for Marden-Walker syndrome

Included ClinVar conditions (2):
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Total variants: 46
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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 0.00001
NM_001378183.1(PIEZO2):c.4708+2T>G rs1189625999 0.00001
NM_001378183.1(PIEZO2):c.6164C>T (p.Thr2055Met) rs1005911734 0.00001
NM_001378183.1(PIEZO2):c.1231C>T (p.Pro411Ser)
NM_001378183.1(PIEZO2):c.1379-1G>A
NM_001378183.1(PIEZO2):c.2170-18del rs11468237
NM_001378183.1(PIEZO2):c.2170-19_2170-18del rs11468237
NM_001378183.1(PIEZO2):c.2170-2A>C rs1598479779
NM_001378183.1(PIEZO2):c.2319-4G>T
NM_001378183.1(PIEZO2):c.3193G>C (p.Asp1065His) rs752023399
NM_001378183.1(PIEZO2):c.3358T>C (p.Phe1120Leu)
NM_001378183.1(PIEZO2):c.3529G>A (p.Ala1177Thr)
NM_001378183.1(PIEZO2):c.605G>T (p.Arg202Leu) rs760374118
NM_001378183.1(PIEZO2):c.7406C>T (p.Thr2469Met) rs878853137
NM_001378183.1(PIEZO2):c.7604T>C (p.Phe2535Ser)
NM_001378183.1(PIEZO2):c.7880dup (p.Gln2628fs)
NM_001378183.1(PIEZO2):c.7953-9del rs5823112
NM_001378183.1(PIEZO2):c.8173A>G (p.Met2725Val)
NM_001378183.1(PIEZO2):c.8395C>G (p.Arg2799Gly) rs587777451
NM_001378183.1(PIEZO2):c.8395C>T (p.Arg2799Cys) rs587777451

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