ClinVar Miner

List of variants studied for arthrogryposis, distal, with impaired proprioception and touch

Included ClinVar conditions (3):
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ClinVar version:
Total variants: 89
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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.6488C>A (p.Ala2163Asp) rs113682091 0.11487
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.3730G>A (p.Val1244Met) rs73946020 0.00599
NM_001378183.1(PIEZO2):c.3757+13A>G rs73389079 0.00391
NM_001378183.1(PIEZO2):c.7969G>A (p.Ala2657Thr) rs147666072 0.00109
NM_001378183.1(PIEZO2):c.6475G>C (p.Glu2159Gln) rs200276831 0.00076
NM_001378183.1(PIEZO2):c.6223C>T (p.Arg2075Cys) rs577065337 0.00061
NM_001378183.1(PIEZO2):c.152C>T (p.Thr51Met) rs371432372 0.00044
NM_001378183.1(PIEZO2):c.4799G>A (p.Arg1600Gln) rs374051556 0.00010
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.7483C>T (p.Arg2495Trp) rs757200280 0.00002
NM_001378183.1(PIEZO2):c.911A>G (p.Tyr304Cys) rs773449118 0.00002
NM_001378183.1(PIEZO2):c.1389G>A (p.Glu463=) rs1462312043 0.00001
NM_001378183.1(PIEZO2):c.1528-1G>A rs1555648288 0.00001
NM_001378183.1(PIEZO2):c.330-2dup rs1342634570 0.00001
NM_001378183.1(PIEZO2):c.5227C>T (p.Arg1743Ter) rs886039821 0.00001
NM_000455.5(STK11):c.554C>T (p.Thr185Ile) rs540627331
NM_001378183.1(PIEZO2):c.10G>T (p.Glu4Ter) rs1276813954
NM_001378183.1(PIEZO2):c.1384C>T (p.Arg462Ter) rs1568069621
NM_001378183.1(PIEZO2):c.1527+2T>C
NM_001378183.1(PIEZO2):c.1543T>A (p.Tyr515Asn) rs777924794
NM_001378183.1(PIEZO2):c.1549_1550insC (p.Ser517fs)
NM_001378183.1(PIEZO2):c.1550_1552delinsCGAA (p.Ser517fs) rs1057519426
NM_001378183.1(PIEZO2):c.1577G>A (p.Trp526Ter)
NM_001378183.1(PIEZO2):c.1631C>T (p.Ser544Phe) rs2039523056
NM_001378183.1(PIEZO2):c.1766del (p.Phe589fs)
NM_001378183.1(PIEZO2):c.1867G>A (p.Glu623Lys) rs1555647548
NM_001378183.1(PIEZO2):c.1882+1G>A
NM_001378183.1(PIEZO2):c.1924G>T (p.Glu642Ter) rs1598482405
NM_001378183.1(PIEZO2):c.2004del (p.Glu668fs)
NM_001378183.1(PIEZO2):c.2073C>A (p.Cys691Ter)
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.273_279del (p.Pro92fs) rs2145486698
NM_001378183.1(PIEZO2):c.2743G>C (p.Gly915Arg) rs750411760
NM_001378183.1(PIEZO2):c.2783C>G (p.Ser928Ter) rs886039824
NM_001378183.1(PIEZO2):c.2882G>A (p.Trp961Ter)
NM_001378183.1(PIEZO2):c.3095_3105del (p.Pro1032fs) rs1057519626
NM_001378183.1(PIEZO2):c.3487C>T (p.Arg1163Ter) rs1203151992
NM_001378183.1(PIEZO2):c.3756_3757+2del rs2143842283
NM_001378183.1(PIEZO2):c.382G>A (p.Gly128Arg)
NM_001378183.1(PIEZO2):c.3923+1G>T
NM_001378183.1(PIEZO2):c.4244_4245del (p.Thr1415fs) rs1598431052
NM_001378183.1(PIEZO2):c.4264+1G>A
NM_001378183.1(PIEZO2):c.4775_4778del (p.Lys1592fs)
NM_001378183.1(PIEZO2):c.4798C>T (p.Arg1600Ter) rs886039822
NM_001378183.1(PIEZO2):c.5228G>C (p.Arg1743Pro) rs886039823
NM_001378183.1(PIEZO2):c.5257-1G>A rs1555630216
NM_001378183.1(PIEZO2):c.5889C>T (p.Gly1963=)
NM_001378183.1(PIEZO2):c.5960del (p.Leu1987fs) rs1057519425
NM_001378183.1(PIEZO2):c.6055C>T (p.Arg2019Ter) rs764171255
NM_001378183.1(PIEZO2):c.6234G>A (p.Trp2078Ter) rs1555627917
NM_001378183.1(PIEZO2):c.6828-8_6829del rs1567958264
NM_001378183.1(PIEZO2):c.704-2A>G rs2144694433
NM_001378183.1(PIEZO2):c.7107dup (p.Leu2370fs)
NM_001378183.1(PIEZO2):c.7168A>G (p.Ile2390Val) rs2035069170
NM_001378183.1(PIEZO2):c.7186G>T (p.Glu2396Ter)
NM_001378183.1(PIEZO2):c.719C>T (p.Ser240Phe) rs1208056389
NM_001378183.1(PIEZO2):c.7433G>A (p.Trp2478Ter)
NM_001378183.1(PIEZO2):c.7434G>A (p.Trp2478Ter)
NM_001378183.1(PIEZO2):c.7608dup (p.Ser2537fs)
NM_001378183.1(PIEZO2):c.7953-9del rs5823112
NM_001378183.1(PIEZO2):c.8081+19A>C rs2034073823
NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His) rs587777450

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