ClinVar Miner

List of variants reported as uncertain significance for Warburg micro syndrome 2 by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 171
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HGVS dbSNP gnomAD frequency
NM_012414.4(RAB3GAP2):c.1258C>T (p.Arg420Cys) rs188522997 0.00033
NM_012414.4(RAB3GAP2):c.3112A>G (p.Ile1038Val) rs144779240 0.00029
NM_012414.4(RAB3GAP2):c.1960T>C (p.Ser654Pro) rs147587414 0.00023
NM_012414.4(RAB3GAP2):c.2176A>G (p.Ile726Val) rs148513462 0.00020
NM_012414.4(RAB3GAP2):c.3340G>A (p.Asp1114Asn) rs150704362 0.00020
NM_012414.4(RAB3GAP2):c.1580C>T (p.Pro527Leu) rs149563712 0.00019
NM_012414.4(RAB3GAP2):c.1856C>T (p.Thr619Ile) rs146728785 0.00013
NM_012414.4(RAB3GAP2):c.33C>G (p.Phe11Leu) rs1446997240 0.00013
NM_012414.4(RAB3GAP2):c.3171G>A (p.Met1057Ile) rs368434757 0.00010
NM_012414.4(RAB3GAP2):c.1481A>G (p.His494Arg) rs369595057 0.00006
NM_012414.4(RAB3GAP2):c.2030A>G (p.Lys677Arg) rs200632298 0.00006
NM_012414.4(RAB3GAP2):c.119A>G (p.Lys40Arg) rs768067709 0.00004
NM_012414.4(RAB3GAP2):c.2955G>A (p.Met985Ile) rs754509783 0.00004
NM_012414.4(RAB3GAP2):c.2962G>A (p.Asp988Asn) rs369645487 0.00004
NM_012414.4(RAB3GAP2):c.46G>A (p.Ala16Thr) rs201514595 0.00004
NM_012414.4(RAB3GAP2):c.1244G>A (p.Arg415Lys) rs770787571 0.00003
NM_012414.4(RAB3GAP2):c.2522C>T (p.Ala841Val) rs764713903 0.00003
NM_012414.4(RAB3GAP2):c.2534A>G (p.His845Arg) rs183772495 0.00003
NM_012414.4(RAB3GAP2):c.467T>C (p.Ile156Thr) rs749444902 0.00003
NM_012414.4(RAB3GAP2):c.506C>T (p.Thr169Ile) rs140312751 0.00003
NM_012414.4(RAB3GAP2):c.614A>G (p.Asn205Ser) rs148476958 0.00003
NM_012414.4(RAB3GAP2):c.86T>G (p.Ile29Ser) rs189536938 0.00003
NM_012414.4(RAB3GAP2):c.2215A>G (p.Ser739Gly) rs572722938 0.00002
NM_012414.4(RAB3GAP2):c.3094C>T (p.Arg1032Cys) rs777414532 0.00002
NM_012414.4(RAB3GAP2):c.3355G>A (p.Glu1119Lys) rs1029887970 0.00002
NM_012414.4(RAB3GAP2):c.3701T>C (p.Val1234Ala) rs1057524739 0.00002
NM_012414.4(RAB3GAP2):c.448C>T (p.Arg150Cys) rs767664284 0.00002
NM_012414.4(RAB3GAP2):c.718G>C (p.Ala240Pro) rs146337693 0.00002
NM_012414.4(RAB3GAP2):c.950A>G (p.Tyr317Cys) rs371921545 0.00002
NM_012414.4(RAB3GAP2):c.1097C>T (p.Pro366Leu) rs988513386 0.00001
NM_012414.4(RAB3GAP2):c.1159G>A (p.Gly387Ser) rs886046023 0.00001
NM_012414.4(RAB3GAP2):c.1393C>T (p.Leu465Phe) rs1444884870 0.00001
NM_012414.4(RAB3GAP2):c.1660A>G (p.Met554Val) rs367548608 0.00001
NM_012414.4(RAB3GAP2):c.180T>A (p.Pro60=) rs138809681 0.00001
NM_012414.4(RAB3GAP2):c.1891G>A (p.Gly631Arg) rs761157075 0.00001
NM_012414.4(RAB3GAP2):c.2051C>A (p.Ala684Glu) rs746414664 0.00001
NM_012414.4(RAB3GAP2):c.2117G>A (p.Gly706Asp) rs775609069 0.00001
NM_012414.4(RAB3GAP2):c.2264T>G (p.Met755Arg) rs1232753900 0.00001
NM_012414.4(RAB3GAP2):c.267G>A (p.Met89Ile) rs376681173 0.00001
NM_012414.4(RAB3GAP2):c.2771G>A (p.Arg924Lys) rs758604254 0.00001
NM_012414.4(RAB3GAP2):c.3028G>A (p.Asp1010Asn) rs763047721 0.00001
NM_012414.4(RAB3GAP2):c.309A>C (p.Lys103Asn) rs1425618506 0.00001
NM_012414.4(RAB3GAP2):c.3183C>G (p.Phe1061Leu) rs760241426 0.00001
NM_012414.4(RAB3GAP2):c.3526G>A (p.Val1176Met) rs754940777 0.00001
NM_012414.4(RAB3GAP2):c.3673G>A (p.Val1225Ile) rs148340670 0.00001
NM_012414.4(RAB3GAP2):c.3757C>T (p.Pro1253Ser) rs564016323 0.00001
NM_012414.4(RAB3GAP2):c.379G>A (p.Glu127Lys) rs747224775 0.00001
NM_012414.4(RAB3GAP2):c.3805G>A (p.Val1269Ile) rs778851334 0.00001
NM_012414.4(RAB3GAP2):c.3818A>G (p.His1273Arg) rs370057302 0.00001
NM_012414.4(RAB3GAP2):c.598G>A (p.Gly200Ser) rs748942795 0.00001
NM_012414.4(RAB3GAP2):c.695G>A (p.Arg232Gln) rs189134236 0.00001
NC_000001.10:g.(?_220088791)_(220406225_?)dup
NM_012414.4(RAB3GAP2):c.1030A>G (p.Asn344Asp) rs1174986383
NM_012414.4(RAB3GAP2):c.103C>T (p.Arg35Trp)
NM_012414.4(RAB3GAP2):c.1076A>C (p.Glu359Ala)
NM_012414.4(RAB3GAP2):c.1078G>C (p.Ala360Pro)
NM_012414.4(RAB3GAP2):c.1102G>A (p.Val368Ile)
NM_012414.4(RAB3GAP2):c.1105G>A (p.Glu369Lys) rs2102871785
NM_012414.4(RAB3GAP2):c.1151G>C (p.Arg384Thr)
NM_012414.4(RAB3GAP2):c.1183T>C (p.Cys395Arg) rs2102870921
NM_012414.4(RAB3GAP2):c.1216G>A (p.Gly406Ser)
NM_012414.4(RAB3GAP2):c.1260C>T (p.Arg420=) rs1658659314
NM_012414.4(RAB3GAP2):c.1262T>C (p.Met421Thr)
NM_012414.4(RAB3GAP2):c.1306G>A (p.Val436Ile)
NM_012414.4(RAB3GAP2):c.1307T>C (p.Val436Ala)
NM_012414.4(RAB3GAP2):c.1346T>A (p.Phe449Tyr)
NM_012414.4(RAB3GAP2):c.1367A>G (p.Gln456Arg)
NM_012414.4(RAB3GAP2):c.1373C>A (p.Pro458Gln) rs1468198640
NM_012414.4(RAB3GAP2):c.1376G>A (p.Ser459Asn)
NM_012414.4(RAB3GAP2):c.1379G>C (p.Arg460Pro) rs757551395
NM_012414.4(RAB3GAP2):c.1396G>C (p.Val466Leu) rs753527336
NM_012414.4(RAB3GAP2):c.1424T>C (p.Leu475Ser)
NM_012414.4(RAB3GAP2):c.1463C>G (p.Ala488Gly) rs201655012
NM_012414.4(RAB3GAP2):c.1511T>C (p.Ile504Thr) rs1553276414
NM_012414.4(RAB3GAP2):c.151G>A (p.Ala51Thr)
NM_012414.4(RAB3GAP2):c.151G>C (p.Ala51Pro)
NM_012414.4(RAB3GAP2):c.154T>C (p.Trp52Arg)
NM_012414.4(RAB3GAP2):c.157G>A (p.Glu53Lys)
NM_012414.4(RAB3GAP2):c.1600A>G (p.Thr534Ala) rs886046021
NM_012414.4(RAB3GAP2):c.1622T>C (p.Leu541Ser)
NM_012414.4(RAB3GAP2):c.1624G>T (p.Ala542Ser)
NM_012414.4(RAB3GAP2):c.1631+6G>A rs780059285
NM_012414.4(RAB3GAP2):c.1631+6G>T
NM_012414.4(RAB3GAP2):c.1649G>A (p.Arg550Gln) rs1374925013
NM_012414.4(RAB3GAP2):c.1667T>G (p.Leu556Arg)
NM_012414.4(RAB3GAP2):c.1687T>G (p.Leu563Val)
NM_012414.4(RAB3GAP2):c.1712T>A (p.Leu571His) rs2102869135
NM_012414.4(RAB3GAP2):c.1714+5G>A
NM_012414.4(RAB3GAP2):c.172C>A (p.Gln58Lys)
NM_012414.4(RAB3GAP2):c.1814C>A (p.Pro605Gln)
NM_012414.4(RAB3GAP2):c.1999-2del
NM_012414.4(RAB3GAP2):c.2020C>T (p.Leu674Phe)
NM_012414.4(RAB3GAP2):c.206C>T (p.Thr69Ile)
NM_012414.4(RAB3GAP2):c.2113G>A (p.Asp705Asn) rs906042384
NM_012414.4(RAB3GAP2):c.2163G>T (p.Lys721Asn)
NM_012414.4(RAB3GAP2):c.2170C>G (p.Leu724Val)
NM_012414.4(RAB3GAP2):c.2171T>C (p.Leu724Pro)
NM_012414.4(RAB3GAP2):c.2220C>A (p.Phe740Leu)
NM_012414.4(RAB3GAP2):c.2269C>T (p.His757Tyr) rs1553275637
NM_012414.4(RAB3GAP2):c.2276T>C (p.Leu759Ser)
NM_012414.4(RAB3GAP2):c.235G>C (p.Val79Leu)
NM_012414.4(RAB3GAP2):c.2371A>G (p.Ile791Val)
NM_012414.4(RAB3GAP2):c.2428G>A (p.Glu810Lys)
NM_012414.4(RAB3GAP2):c.2453C>G (p.Ser818Cys)
NM_012414.4(RAB3GAP2):c.2473C>G (p.Arg825Gly) rs374334249
NM_012414.4(RAB3GAP2):c.2477C>G (p.Thr826Arg) rs1658187235
NM_012414.4(RAB3GAP2):c.2489A>G (p.Gln830Arg) rs2102859411
NM_012414.4(RAB3GAP2):c.2509G>T (p.Ala837Ser)
NM_012414.4(RAB3GAP2):c.2525A>G (p.His842Arg)
NM_012414.4(RAB3GAP2):c.2546C>T (p.Ala849Val)
NM_012414.4(RAB3GAP2):c.2564T>A (p.Met855Lys) rs1658184967
NM_012414.4(RAB3GAP2):c.2578-5A>T
NM_012414.4(RAB3GAP2):c.2586A>G (p.Gln862=)
NM_012414.4(RAB3GAP2):c.2611G>A (p.Ala871Thr)
NM_012414.4(RAB3GAP2):c.2624C>G (p.Ser875Cys) rs1571880860
NM_012414.4(RAB3GAP2):c.265A>G (p.Met89Val)
NM_012414.4(RAB3GAP2):c.2717A>G (p.Lys906Arg)
NM_012414.4(RAB3GAP2):c.2756C>G (p.Ala919Gly) rs2102858848
NM_012414.4(RAB3GAP2):c.2758G>A (p.Glu920Lys)
NM_012414.4(RAB3GAP2):c.2810G>A (p.Gly937Asp) rs150834670
NM_012414.4(RAB3GAP2):c.284A>G (p.Gln95Arg) rs1659133093
NM_012414.4(RAB3GAP2):c.2852T>A (p.Phe951Tyr)
NM_012414.4(RAB3GAP2):c.2853C>G (p.Phe951Leu)
NM_012414.4(RAB3GAP2):c.2884G>A (p.Glu962Lys) rs1658094190
NM_012414.4(RAB3GAP2):c.2978C>G (p.Pro993Arg)
NM_012414.4(RAB3GAP2):c.29A>G (p.Tyr10Cys)
NM_012414.4(RAB3GAP2):c.3038A>C (p.His1013Pro)
NM_012414.4(RAB3GAP2):c.303G>A (p.Val101=)
NM_012414.4(RAB3GAP2):c.304C>T (p.Pro102Ser)
NM_012414.4(RAB3GAP2):c.3061G>A (p.Val1021Ile)
NM_012414.4(RAB3GAP2):c.310T>C (p.Trp104Arg) rs1553278790
NM_012414.4(RAB3GAP2):c.3145G>A (p.Val1049Ile)
NM_012414.4(RAB3GAP2):c.3152A>G (p.Asn1051Ser)
NM_012414.4(RAB3GAP2):c.3154+3A>G rs1658032998
NM_012414.4(RAB3GAP2):c.3179C>T (p.Thr1060Met)
NM_012414.4(RAB3GAP2):c.3225+5G>C
NM_012414.4(RAB3GAP2):c.3232A>C (p.Lys1078Gln)
NM_012414.4(RAB3GAP2):c.3257G>T (p.Arg1086Leu)
NM_012414.4(RAB3GAP2):c.3280A>C (p.Thr1094Pro)
NM_012414.4(RAB3GAP2):c.3288G>A (p.Met1096Ile)
NM_012414.4(RAB3GAP2):c.3301G>A (p.Gly1101Ser)
NM_012414.4(RAB3GAP2):c.3314A>G (p.Asp1105Gly)
NM_012414.4(RAB3GAP2):c.3353A>T (p.Asp1118Val)
NM_012414.4(RAB3GAP2):c.3380C>G (p.Thr1127Ser)
NM_012414.4(RAB3GAP2):c.3400G>A (p.Val1134Met) rs138489010
NM_012414.4(RAB3GAP2):c.3551G>T (p.Ser1184Ile)
NM_012414.4(RAB3GAP2):c.3563A>C (p.Asn1188Thr)
NM_012414.4(RAB3GAP2):c.3586T>A (p.Ser1196Thr)
NM_012414.4(RAB3GAP2):c.3614T>G (p.Met1205Arg)
NM_012414.4(RAB3GAP2):c.3704A>G (p.Lys1235Arg)
NM_012414.4(RAB3GAP2):c.3713C>T (p.Thr1238Ile)
NM_012414.4(RAB3GAP2):c.3752A>T (p.Asp1251Val) rs769405335
NM_012414.4(RAB3GAP2):c.3925G>A (p.Gly1309Arg)
NM_012414.4(RAB3GAP2):c.3940C>T (p.His1314Tyr)
NM_012414.4(RAB3GAP2):c.3956C>T (p.Thr1319Ile)
NM_012414.4(RAB3GAP2):c.3995del (p.Pro1332fs)
NM_012414.4(RAB3GAP2):c.4029C>A (p.Asp1343Glu)
NM_012414.4(RAB3GAP2):c.4051G>C (p.Glu1351Gln) rs1558136466
NM_012414.4(RAB3GAP2):c.4180T>A (p.Ter1394Arg)
NM_012414.4(RAB3GAP2):c.496C>T (p.Arg166Cys)
NM_012414.4(RAB3GAP2):c.503A>G (p.Tyr168Cys) rs1659068803
NM_012414.4(RAB3GAP2):c.517G>A (p.Val173Met)
NM_012414.4(RAB3GAP2):c.550C>T (p.Pro184Ser)
NM_012414.4(RAB3GAP2):c.613A>G (p.Asn205Asp)
NM_012414.4(RAB3GAP2):c.700C>G (p.Gln234Glu) rs2102877645
NM_012414.4(RAB3GAP2):c.701A>G (p.Gln234Arg)
NM_012414.4(RAB3GAP2):c.702G>C (p.Gln234His) rs1658954750
NM_012414.4(RAB3GAP2):c.745C>T (p.Pro249Ser)
NM_012414.4(RAB3GAP2):c.770G>T (p.Gly257Val)
NM_012414.4(RAB3GAP2):c.893C>T (p.Pro298Leu)
NM_012414.4(RAB3GAP2):c.898G>A (p.Ala300Thr)

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