ClinVar Miner

List of variants reported as benign for Genitopatellar syndrome by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 118
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HGVS dbSNP gnomAD frequency
NM_012330.4(KAT6B):c.4495G>A (p.Val1499Ile) rs3740321 0.03254
NM_012330.4(KAT6B):c.4278C>T (p.Ala1426=) rs3740322 0.03160
NM_012330.4(KAT6B):c.3649G>T (p.Ala1217Ser) rs57372986 0.00678
NM_012330.4(KAT6B):c.929-12A>G rs190502446 0.00570
NM_012330.4(KAT6B):c.4407G>A (p.Ser1469=) rs114126792 0.00389
NM_012330.4(KAT6B):c.375C>T (p.Ser125=) rs41314998 0.00269
NM_012330.4(KAT6B):c.4835G>A (p.Arg1612His) rs72803461 0.00257
NM_012330.4(KAT6B):c.1663G>A (p.Gly555Arg) rs146395020 0.00107
NM_012330.4(KAT6B):c.2231+9A>G rs201260397 0.00101
NM_012330.4(KAT6B):c.5970C>T (p.Asn1990=) rs140359323 0.00044
NM_012330.4(KAT6B):c.4239A>G (p.Glu1413=) rs140636550 0.00036
NM_012330.4(KAT6B):c.4633G>A (p.Val1545Ile) rs145158232 0.00031
NM_012330.4(KAT6B):c.4080A>G (p.Glu1360=) rs546432678 0.00030
NM_012330.4(KAT6B):c.6162C>T (p.His2054=) rs192237531 0.00030
NM_012330.4(KAT6B):c.4434C>T (p.Gly1478=) rs148364222 0.00029
NM_012330.4(KAT6B):c.2878C>T (p.Arg960Trp) rs147643220 0.00025
NM_012330.4(KAT6B):c.5355C>T (p.Pro1785=) rs138711901 0.00024
NM_012330.4(KAT6B):c.5749A>G (p.Ile1917Val) rs199662367 0.00024
NM_012330.4(KAT6B):c.6048G>A (p.Thr2016=) rs116978399 0.00024
NM_012330.4(KAT6B):c.3962A>T (p.Gln1321Leu) rs138030591 0.00021
NM_012330.4(KAT6B):c.4211G>A (p.Arg1404His) rs563033366 0.00021
NM_012330.4(KAT6B):c.3685A>G (p.Ser1229Gly) rs182978198 0.00020
NM_012330.4(KAT6B):c.1268C>G (p.Ser423Cys) rs770325540 0.00019
NM_012330.4(KAT6B):c.625C>T (p.Arg209Cys) rs572706456 0.00019
NM_012330.4(KAT6B):c.3028C>T (p.Arg1010Trp) rs142309185 0.00016
NM_012330.4(KAT6B):c.933G>C (p.Met311Ile) rs141914733 0.00016
NM_012330.4(KAT6B):c.2612G>A (p.Arg871Gln) rs779336844 0.00015
NM_012330.4(KAT6B):c.307C>T (p.Arg103Cys) rs374549966 0.00015
NM_012330.4(KAT6B):c.4510G>A (p.Glu1504Lys) rs200393557 0.00011
NM_012330.4(KAT6B):c.2042T>A (p.Val681Glu) rs376258409 0.00010
NM_012330.4(KAT6B):c.4036G>T (p.Asp1346Tyr) rs542036896 0.00010
NM_012330.4(KAT6B):c.699A>G (p.Glu233=) rs188787788 0.00010
NM_012330.4(KAT6B):c.3409C>A (p.Arg1137Ser) rs373696238 0.00009
NM_012330.4(KAT6B):c.4441C>G (p.Leu1481Val) rs567260713 0.00007
NM_012330.4(KAT6B):c.4478C>T (p.Ala1493Val) rs369068910 0.00007
NM_012330.4(KAT6B):c.839G>A (p.Arg280Lys) rs148243411 0.00007
NM_012330.4(KAT6B):c.1485A>G (p.Pro495=) rs200878724 0.00006
NM_012330.4(KAT6B):c.3697G>A (p.Glu1233Lys) rs371178186 0.00006
NM_012330.4(KAT6B):c.3106C>A (p.Pro1036Thr) rs764184204 0.00004
NM_012330.4(KAT6B):c.4312G>A (p.Glu1438Lys) rs377275320 0.00004
NM_012330.4(KAT6B):c.4523C>A (p.Pro1508Gln) rs1014954135 0.00004
NM_012330.4(KAT6B):c.730+7T>A rs571475726 0.00004
NM_012330.4(KAT6B):c.2153G>A (p.Arg718Gln) rs754128910 0.00003
NM_012330.4(KAT6B):c.3539T>G (p.Val1180Gly) rs1213787718 0.00003
NM_012330.4(KAT6B):c.3728A>G (p.Lys1243Arg) rs758355954 0.00003
NM_012330.4(KAT6B):c.4384C>A (p.Leu1462Ile) rs374530664 0.00003
NM_012330.4(KAT6B):c.5232G>A (p.Pro1744=) rs569870263 0.00003
NM_012330.4(KAT6B):c.6130G>A (p.Gly2044Ser) rs374969061 0.00003
NM_012330.4(KAT6B):c.730+19A>G rs773761026 0.00003
NM_012330.4(KAT6B):c.836G>A (p.Gly279Asp) rs370398832 0.00003
NM_012330.4(KAT6B):c.2008A>G (p.Ile670Val) rs145378526 0.00002
NM_012330.4(KAT6B):c.2744A>G (p.Tyr915Cys) rs772829576 0.00002
NM_012330.4(KAT6B):c.104C>T (p.Ala35Val) rs772997103 0.00001
NM_012330.4(KAT6B):c.1367T>C (p.Ile456Thr) rs766318986 0.00001
NM_012330.4(KAT6B):c.1387C>T (p.Arg463Cys) rs1222902525 0.00001
NM_012330.4(KAT6B):c.1388G>A (p.Arg463His) rs768128984 0.00001
NM_012330.4(KAT6B):c.1540A>G (p.Thr514Ala) rs534868169 0.00001
NM_012330.4(KAT6B):c.1654A>G (p.Thr552Ala) rs373962168 0.00001
NM_012330.4(KAT6B):c.2084T>C (p.Val695Ala) rs776307689 0.00001
NM_012330.4(KAT6B):c.2099A>G (p.Gln700Arg) rs371018598 0.00001
NM_012330.4(KAT6B):c.2270A>G (p.Tyr757Cys) rs758845436 0.00001
NM_012330.4(KAT6B):c.2501A>T (p.Glu834Val) rs768402080 0.00001
NM_012330.4(KAT6B):c.3109G>A (p.Ala1037Thr) rs754306389 0.00001
NM_012330.4(KAT6B):c.3146C>T (p.Pro1049Leu) rs754487804 0.00001
NM_012330.4(KAT6B):c.3226G>A (p.Glu1076Lys) rs750930283 0.00001
NM_012330.4(KAT6B):c.3533T>C (p.Ile1178Thr) rs1264397368 0.00001
NM_012330.4(KAT6B):c.365A>G (p.Asn122Ser) rs1287506606 0.00001
NM_012330.4(KAT6B):c.3718G>A (p.Glu1240Lys) rs140989004 0.00001
NM_012330.4(KAT6B):c.425C>T (p.Thr142Ile) rs1054836015 0.00001
NM_012330.4(KAT6B):c.4397C>G (p.Pro1466Arg) rs368744240 0.00001
NM_012330.4(KAT6B):c.4423A>G (p.Met1475Val) rs774593261 0.00001
NM_012330.4(KAT6B):c.4435G>A (p.Val1479Ile) rs775255115 0.00001
NM_012330.4(KAT6B):c.4534G>C (p.Ala1512Pro) rs772508131 0.00001
NM_012330.4(KAT6B):c.4570G>A (p.Asp1524Asn) rs545973592 0.00001
NM_012330.4(KAT6B):c.4573A>G (p.Thr1525Ala) rs920418680 0.00001
NM_012330.4(KAT6B):c.4656C>G (p.Ser1552Arg) rs768290031 0.00001
NM_012330.4(KAT6B):c.4730G>A (p.Arg1577His) rs757242396 0.00001
NM_012330.4(KAT6B):c.510G>A (p.Pro170=) rs750020725 0.00001
NM_012330.4(KAT6B):c.5242G>A (p.Val1748Ile) rs774598396 0.00001
NM_012330.4(KAT6B):c.5784G>A (p.Lys1928=) rs762885368 0.00001
NM_012330.4(KAT6B):c.6149C>T (p.Ala2050Val) rs1165451072 0.00001
NM_012330.4(KAT6B):c.679C>T (p.Arg227Cys) rs749252195 0.00001
NM_012330.4(KAT6B):c.1684C>T (p.His562Tyr) rs1842136832
NM_012330.4(KAT6B):c.2124G>C (p.Glu708Asp) rs1842356298
NM_012330.4(KAT6B):c.2373+23del
NM_012330.4(KAT6B):c.2373+6C>T rs192506542
NM_012330.4(KAT6B):c.2950A>T (p.Ser984Cys) rs2549165117
NM_012330.4(KAT6B):c.2992T>A (p.Ser998Thr) rs776774212
NM_012330.4(KAT6B):c.299A>G (p.Asn100Ser) rs2548334531
NM_012330.4(KAT6B):c.3231_3242del (p.Asp1077_Glu1080del) rs569172957
NM_012330.4(KAT6B):c.3240GGAAGAAGAGGA[1] (p.Glu1086_Glu1089del) rs201769534
NM_012330.4(KAT6B):c.3289GAA[7] (p.Glu1104del) rs71929101
NM_012330.4(KAT6B):c.3316A>G (p.Ile1106Val) rs2549171168
NM_012330.4(KAT6B):c.3704G>A (p.Ser1235Asn) rs759522596
NM_012330.4(KAT6B):c.3717C>T (p.Pro1239=) rs147746065
NM_012330.4(KAT6B):c.4079AAGAGGAAG[2] (p.Glu1366_Glu1368del) rs375513122
NM_012330.4(KAT6B):c.4079AAGAGGAAG[4] (p.Glu1366_Glu1368dup) rs375513122
NM_012330.4(KAT6B):c.4099G>C (p.Glu1367Gln) rs2549199879
NM_012330.4(KAT6B):c.4109AAG[5] (p.Glu1373dup) rs751483850
NM_012330.4(KAT6B):c.423C>G (p.Ser141Arg) rs779662050
NM_012330.4(KAT6B):c.4279G>T (p.Asp1427Tyr) rs533156310
NM_012330.4(KAT6B):c.4285G>A (p.Glu1429Lys) rs1846114839
NM_012330.4(KAT6B):c.4376T>C (p.Phe1459Ser) rs1213932187
NM_012330.4(KAT6B):c.4447G>C (p.Ala1483Pro) rs2549202331
NM_012330.4(KAT6B):c.4486C>A (p.Pro1496Thr)
NM_012330.4(KAT6B):c.4514A>G (p.Glu1505Gly) rs2134241318
NM_012330.4(KAT6B):c.4609A>G (p.Ile1537Val) rs1485842076
NM_012330.4(KAT6B):c.4657A>T (p.Ser1553Cys) rs2549204542
NM_012330.4(KAT6B):c.4727C>A (p.Thr1576Asn) rs368252918
NM_012330.4(KAT6B):c.527A>G (p.Tyr176Cys) rs2548336358
NM_012330.4(KAT6B):c.5806G>T (p.Ala1936Ser) rs372902605
NM_012330.4(KAT6B):c.592G>C (p.Val198Leu) rs2548337064
NM_012330.4(KAT6B):c.628G>A (p.Ala210Thr) rs2548879077
NM_012330.4(KAT6B):c.731-11del rs772911843
NM_012330.4(KAT6B):c.781G>A (p.Ala261Thr) rs1841724879
NM_012330.4(KAT6B):c.799A>G (p.Ile267Val) rs2548920796
NM_012330.4(KAT6B):c.846T>C (p.Ala282=) rs772494538
NM_012330.4(KAT6B):c.928+6C>G rs1589727185

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