ClinVar Miner

List of variants in gene PRICKLE2 reported as likely benign for hereditary skeletal muscle disorder

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 163
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HGVS dbSNP gnomAD frequency
NM_198859.4(PRICKLE2):c.2191A>G (p.Ser731Gly) rs148689951 0.00097
NM_198859.4(PRICKLE2):c.1314G>C (p.Gln438His) rs202170644 0.00064
NM_198859.4(PRICKLE2):c.396+20A>C rs200795972 0.00024
NM_198859.4(PRICKLE2):c.1044G>A (p.Glu348=) rs759826899 0.00017
NM_198859.4(PRICKLE2):c.1661-19C>T rs542772297 0.00014
NM_198859.4(PRICKLE2):c.594C>T (p.Cys198=) rs367680077 0.00012
NM_198859.4(PRICKLE2):c.972C>T (p.Ser324=) rs143141434 0.00011
NM_198859.4(PRICKLE2):c.1425G>A (p.Gly475=) rs147177975 0.00010
NM_198859.4(PRICKLE2):c.1602G>A (p.Thr534=) rs144757200 0.00009
NM_198859.4(PRICKLE2):c.1737T>C (p.Ser579=) rs1477115652 0.00009
NM_198859.4(PRICKLE2):c.906C>T (p.Gly302=) rs369079932 0.00009
NM_198859.4(PRICKLE2):c.1104C>T (p.Asp368=) rs749983619 0.00008
NM_198859.4(PRICKLE2):c.1311C>G (p.Ala437=) rs140374952 0.00006
NM_198859.4(PRICKLE2):c.1332G>A (p.Lys444=) rs949245293 0.00006
NM_198859.4(PRICKLE2):c.1413C>T (p.Asp471=) rs771425247 0.00006
NM_198859.4(PRICKLE2):c.2235C>T (p.Tyr745=) rs532567960 0.00006
NM_198859.4(PRICKLE2):c.330C>T (p.Arg110=) rs751122249 0.00006
NM_198859.4(PRICKLE2):c.2259G>A (p.Ser753=) rs769036804 0.00005
NM_198859.4(PRICKLE2):c.1098A>C (p.Ser366=) rs779640034 0.00004
NM_198859.4(PRICKLE2):c.1661-11C>G rs748395499 0.00004
NM_198859.4(PRICKLE2):c.1803C>T (p.Ser601=) rs1431593729 0.00004
NM_198859.4(PRICKLE2):c.345C>T (p.Arg115=) rs148888682 0.00004
NM_198859.4(PRICKLE2):c.788-20A>G rs773057901 0.00004
NM_198859.4(PRICKLE2):c.1048C>T (p.Pro350Ser) rs771168722 0.00003
NM_198859.4(PRICKLE2):c.1359G>A (p.Ser453=) rs376231873 0.00003
NM_198859.4(PRICKLE2):c.2142G>A (p.Arg714=) rs1177384016 0.00003
NM_198859.4(PRICKLE2):c.2479A>C (p.Arg827=) rs777032629 0.00003
NM_198859.4(PRICKLE2):c.123G>A (p.Pro41=) rs727504106 0.00002
NM_198859.4(PRICKLE2):c.1422G>A (p.Pro474=) rs778956632 0.00002
NM_198859.4(PRICKLE2):c.144+19G>A rs778658655 0.00002
NM_198859.4(PRICKLE2):c.1590A>G (p.Thr530=) rs886058800 0.00002
NM_198859.4(PRICKLE2):c.1661-15T>C rs1330364882 0.00002
NM_198859.4(PRICKLE2):c.18G>A (p.Pro6=) rs754063352 0.00002
NM_198859.4(PRICKLE2):c.750G>A (p.Leu250=) rs745835545 0.00002
NM_198859.4(PRICKLE2):c.792C>T (p.Ile264=) rs759827180 0.00002
NM_198859.4(PRICKLE2):c.897G>A (p.Pro299=) rs1312900152 0.00002
NM_198859.4(PRICKLE2):c.1101C>T (p.Ala367=) rs755732268 0.00001
NM_198859.4(PRICKLE2):c.1323G>A (p.Met441Ile) rs546622086 0.00001
NM_198859.4(PRICKLE2):c.141A>G (p.Glu47=) rs2078511790 0.00001
NM_198859.4(PRICKLE2):c.1579C>T (p.Leu527=) rs992998143 0.00001
NM_198859.4(PRICKLE2):c.1593G>A (p.Glu531=) rs1337013281 0.00001
NM_198859.4(PRICKLE2):c.1621C>A (p.Arg541=) rs372400638 0.00001
NM_198859.4(PRICKLE2):c.1661-18C>T rs770658226 0.00001
NM_198859.4(PRICKLE2):c.1701A>G (p.Leu567=) rs1192406278 0.00001
NM_198859.4(PRICKLE2):c.1950G>A (p.Ala650=) rs1310483187 0.00001
NM_198859.4(PRICKLE2):c.2085C>T (p.Ser695=) rs1174848549 0.00001
NM_198859.4(PRICKLE2):c.2169T>C (p.Tyr723=) rs779638112 0.00001
NM_198859.4(PRICKLE2):c.2175A>G (p.Gln725=) rs769402289 0.00001
NM_198859.4(PRICKLE2):c.2343T>C (p.Ser781=) rs1348100945 0.00001
NM_198859.4(PRICKLE2):c.2457C>G (p.Pro819=) rs1324717403 0.00001
NM_198859.4(PRICKLE2):c.2526C>T (p.Ile842=) rs2076610677 0.00001
NM_198859.4(PRICKLE2):c.264A>T (p.Arg88=) rs769630015 0.00001
NM_198859.4(PRICKLE2):c.360T>A (p.Pro120=) rs191871740 0.00001
NM_198859.4(PRICKLE2):c.397-8C>T rs762192312 0.00001
NM_198859.4(PRICKLE2):c.426C>A (p.Ile142=) rs559904651 0.00001
NM_198859.4(PRICKLE2):c.471G>A (p.Pro157=) rs777067889 0.00001
NM_198859.4(PRICKLE2):c.483A>G (p.Val161=) rs771805969 0.00001
NM_198859.4(PRICKLE2):c.492C>T (p.Val164=) rs2077651144 0.00001
NM_198859.4(PRICKLE2):c.600+7G>A rs765317470 0.00001
NM_198859.4(PRICKLE2):c.600+8C>T rs759566367 0.00001
NM_198859.4(PRICKLE2):c.601-10C>A rs756949758 0.00001
NM_198859.4(PRICKLE2):c.637C>A (p.Arg213=) rs753970642 0.00001
NM_198859.4(PRICKLE2):c.660T>C (p.Phe220=) rs756711521 0.00001
NM_198859.4(PRICKLE2):c.714G>A (p.Glu238=) rs941704858 0.00001
NM_198859.4(PRICKLE2):c.72G>A (p.Ser24=) rs888655219 0.00001
NM_198859.4(PRICKLE2):c.990G>A (p.Arg330=) rs370001319 0.00001
NM_198859.4(PRICKLE2):c.1068C>T (p.Ser356=)
NM_198859.4(PRICKLE2):c.1116G>A (p.Leu372=)
NM_198859.4(PRICKLE2):c.1120C>T (p.Leu374=)
NM_198859.4(PRICKLE2):c.1143G>A (p.Leu381=)
NM_198859.4(PRICKLE2):c.1158C>A (p.Pro386=) rs766760309
NM_198859.4(PRICKLE2):c.1185G>A (p.Arg395=) rs1426180064
NM_198859.4(PRICKLE2):c.1254C>G (p.Leu418=)
NM_198859.4(PRICKLE2):c.126G>A (p.Pro42=)
NM_198859.4(PRICKLE2):c.1275A>G (p.Arg425=)
NM_198859.4(PRICKLE2):c.1290A>G (p.Pro430=)
NM_198859.4(PRICKLE2):c.1302G>T (p.Gly434=)
NM_198859.4(PRICKLE2):c.1317C>T (p.Pro439=) rs745530308
NM_198859.4(PRICKLE2):c.1362A>C (p.Ser454=)
NM_198859.4(PRICKLE2):c.144+12G>T
NM_198859.4(PRICKLE2):c.1449C>T (p.Tyr483=)
NM_198859.4(PRICKLE2):c.145-15C>T
NM_198859.4(PRICKLE2):c.1476T>C (p.Ser492=) rs2107015019
NM_198859.4(PRICKLE2):c.1482C>T (p.Thr494=)
NM_198859.4(PRICKLE2):c.1512G>A (p.Glu504=)
NM_198859.4(PRICKLE2):c.1545T>C (p.Thr515=) rs747702861
NM_198859.4(PRICKLE2):c.1557G>A (p.Arg519=) rs2107014820
NM_198859.4(PRICKLE2):c.1560C>G (p.Thr520=) rs2107014810
NM_198859.4(PRICKLE2):c.1584A>G (p.Lys528=) rs2077464539
NM_198859.4(PRICKLE2):c.1650T>C (p.Ser550=)
NM_198859.4(PRICKLE2):c.1660+14A>G rs549966146
NM_198859.4(PRICKLE2):c.1660+15C>T
NM_198859.4(PRICKLE2):c.1785G>A (p.Ser595=)
NM_198859.4(PRICKLE2):c.1938T>C (p.Asp646=)
NM_198859.4(PRICKLE2):c.1944G>C (p.Gly648=) rs2076622893
NM_198859.4(PRICKLE2):c.1959G>A (p.Lys653=) rs1449765785
NM_198859.4(PRICKLE2):c.1977C>G (p.Gly659=) rs376252127
NM_198859.4(PRICKLE2):c.1977C>T (p.Gly659=)
NM_198859.4(PRICKLE2):c.2010G>A (p.Arg670=)
NM_198859.4(PRICKLE2):c.2031C>T (p.Asp677=)
NM_198859.4(PRICKLE2):c.2037C>T (p.Asn679=) rs1575531163
NM_198859.4(PRICKLE2):c.2082C>T (p.Arg694=)
NM_198859.4(PRICKLE2):c.2121C>G (p.Ala707=) rs1278527320
NM_198859.4(PRICKLE2):c.2121C>T (p.Ala707=)
NM_198859.4(PRICKLE2):c.2127C>T (p.Ser709=) rs2106935376
NM_198859.4(PRICKLE2):c.2145C>G (p.Pro715=)
NM_198859.4(PRICKLE2):c.2160G>A (p.Arg720=) rs1003980147
NM_198859.4(PRICKLE2):c.2172C>T (p.Asp724=)
NM_198859.4(PRICKLE2):c.2184C>A (p.Arg728=) rs1262461948
NM_198859.4(PRICKLE2):c.2220C>T (p.Ser740=) rs867670809
NM_198859.4(PRICKLE2):c.222G>A (p.Lys74=) rs2107045863
NM_198859.4(PRICKLE2):c.2244C>T (p.Cys748=) rs2106935117
NM_198859.4(PRICKLE2):c.225G>A (p.Gln75=) rs1575606617
NM_198859.4(PRICKLE2):c.2274G>A (p.Gln758=) rs2076615763
NM_198859.4(PRICKLE2):c.2283T>C (p.Phe761=) rs1575530550
NM_198859.4(PRICKLE2):c.2352T>G (p.Ser784=)
NM_198859.4(PRICKLE2):c.243G>A (p.Pro81=)
NM_198859.4(PRICKLE2):c.2442C>T (p.Ser814=)
NM_198859.4(PRICKLE2):c.2445C>T (p.Ser815=) rs1346052915
NM_198859.4(PRICKLE2):c.246A>G (p.Pro82=)
NM_198859.4(PRICKLE2):c.2493C>T (p.His831=) rs2106934707
NM_198859.4(PRICKLE2):c.2517A>G (p.Lys839=)
NM_198859.4(PRICKLE2):c.2532T>C (p.Ser844=) rs748122339
NM_198859.4(PRICKLE2):c.258+13A>C
NM_198859.4(PRICKLE2):c.258+19C>T
NM_198859.4(PRICKLE2):c.259-12G>T rs751516474
NM_198859.4(PRICKLE2):c.288A>G (p.Glu96=)
NM_198859.4(PRICKLE2):c.30G>A (p.Glu10=)
NM_198859.4(PRICKLE2):c.315C>T (p.Ser105=)
NM_198859.4(PRICKLE2):c.366A>C (p.Pro122=) rs1248570551
NM_198859.4(PRICKLE2):c.369C>T (p.Val123=) rs1458439956
NM_198859.4(PRICKLE2):c.372C>T (p.Thr124=) rs201949075
NM_198859.4(PRICKLE2):c.396+19G>A
NM_198859.4(PRICKLE2):c.396+19G>T
NM_198859.4(PRICKLE2):c.397-7C>T rs1575600608
NM_198859.4(PRICKLE2):c.399C>T (p.Cys133=)
NM_198859.4(PRICKLE2):c.423C>T (p.Asp141=)
NM_198859.4(PRICKLE2):c.432G>A (p.Val144=)
NM_198859.4(PRICKLE2):c.438G>T (p.Ala146=)
NM_198859.4(PRICKLE2):c.447T>A (p.Ala149=) rs2107034706
NM_198859.4(PRICKLE2):c.453C>T (p.His151=)
NM_198859.4(PRICKLE2):c.489T>G (p.Thr163=) rs2107034580
NM_198859.4(PRICKLE2):c.504C>T (p.Leu168=) rs1362874246
NM_198859.4(PRICKLE2):c.543A>T (p.Ile181=) rs952961914
NM_198859.4(PRICKLE2):c.561T>C (p.His187=)
NM_198859.4(PRICKLE2):c.585T>C (p.Cys195=) rs2077648753
NM_198859.4(PRICKLE2):c.601-19T>G
NM_198859.4(PRICKLE2):c.633G>A (p.Glu211=)
NM_198859.4(PRICKLE2):c.732C>T (p.Cys244=) rs1575596028
NM_198859.4(PRICKLE2):c.741C>T (p.Phe247=)
NM_198859.4(PRICKLE2):c.759A>G (p.Glu253=) rs1422015238
NM_198859.4(PRICKLE2):c.762T>C (p.Tyr254=) rs2077574651
NM_198859.4(PRICKLE2):c.780A>G (p.Gln260=)
NM_198859.4(PRICKLE2):c.787+16G>T
NM_198859.4(PRICKLE2):c.788-28_788-20del
NM_198859.4(PRICKLE2):c.788-6T>G rs180903875
NM_198859.4(PRICKLE2):c.810C>G (p.Thr270=)
NM_198859.4(PRICKLE2):c.81T>C (p.Asp27=) rs1435284437
NM_198859.4(PRICKLE2):c.837T>C (p.Thr279=) rs1226884715
NM_198859.4(PRICKLE2):c.843C>A (p.Thr281=) rs2107016324
NM_198859.4(PRICKLE2):c.894C>A (p.Leu298=) rs372232760
NM_198859.4(PRICKLE2):c.906C>A (p.Gly302=) rs369079932
NM_198859.4(PRICKLE2):c.906C>G (p.Gly302=) rs369079932

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