ClinVar Miner

List of variants studied for Griscelli syndrome type 2 by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 179
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HGVS dbSNP gnomAD frequency
NM_183235.3(RAB27A):c.594G>A (p.Val198=) rs141222527 0.00374
NM_183235.3(RAB27A):c.468-3C>T rs113895512 0.00237
NM_183235.3(RAB27A):c.399C>T (p.Asn133=) rs577958598 0.00036
NM_183235.3(RAB27A):c.418C>G (p.Gln140Glu) rs150463407 0.00031
NM_183235.3(RAB27A):c.560G>A (p.Arg187Gln) rs182849552 0.00022
NM_183235.3(RAB27A):c.559C>T (p.Arg187Trp) rs144946000 0.00016
NM_183235.3(RAB27A):c.17A>G (p.Tyr6Cys) rs145253993 0.00014
NM_183235.3(RAB27A):c.307A>G (p.Asn103Asp) rs144492641 0.00013
NM_183235.3(RAB27A):c.518C>G (p.Ala173Gly) rs142217102 0.00011
NM_183235.3(RAB27A):c.275C>T (p.Ala92Val) rs137960099 0.00010
NM_183235.3(RAB27A):c.172C>T (p.Pro58Ser) rs201284258 0.00009
NM_183235.3(RAB27A):c.543A>G (p.Ile181Met) rs139025012 0.00009
NM_183235.3(RAB27A):c.526A>T (p.Met176Leu) rs757760608 0.00008
NM_183235.3(RAB27A):c.213G>T (p.Gln71His) rs776920896 0.00006
NM_183235.3(RAB27A):c.255G>T (p.Thr85=) rs147130708 0.00006
NM_183235.3(RAB27A):c.424G>C (p.Val142Leu) rs538323738 0.00006
NM_183235.3(RAB27A):c.468-4C>T rs371060436 0.00006
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter) rs200956636 0.00006
NM_183235.3(RAB27A):c.551G>A (p.Arg184Gln) rs141362723 0.00006
NM_183235.3(RAB27A):c.636A>C (p.Glu212Asp) rs1210017547 0.00006
NM_183235.3(RAB27A):c.276T>C (p.Ala92=) rs376589113 0.00005
NM_183235.3(RAB27A):c.168T>C (p.Ser56=) rs376232909 0.00004
NM_183235.3(RAB27A):c.257C>T (p.Thr86Ile) rs369777755 0.00004
NM_183235.3(RAB27A):c.344G>A (p.Ser115Asn) rs183582444 0.00004
NM_183235.3(RAB27A):c.383T>C (p.Ile128Thr) rs143719577 0.00004
NM_183235.3(RAB27A):c.467G>C (p.Gly156Ala) rs200031368 0.00004
NM_183235.3(RAB27A):c.49G>A (p.Asp17Asn) rs777995262 0.00004
NM_183235.3(RAB27A):c.620C>T (p.Thr207Met) rs151048993 0.00004
NM_183235.3(RAB27A):c.11G>T (p.Gly4Val) rs539575657 0.00003
NM_183235.3(RAB27A):c.252A>G (p.Leu84=) rs4340274 0.00003
NM_183235.3(RAB27A):c.344-10A>G rs199702031 0.00003
NM_183235.3(RAB27A):c.453C>T (p.Leu151=) rs753732362 0.00003
NM_183235.3(RAB27A):c.468-16T>C rs747032887 0.00003
NM_183235.3(RAB27A):c.474C>T (p.Pro158=) rs777485094 0.00003
NM_183235.3(RAB27A):c.153+20A>G rs1370109364 0.00002
NM_183235.3(RAB27A):c.227C>T (p.Ala76Val) rs766632505 0.00002
NM_183235.3(RAB27A):c.239+1G>T rs761810607 0.00002
NM_183235.3(RAB27A):c.239G>C (p.Arg80Thr) rs765369750 0.00002
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys) rs753966933 0.00002
NM_183235.3(RAB27A):c.340A>G (p.Ile114Val) rs1218762595 0.00002
NM_183235.3(RAB27A):c.37T>G (p.Leu13Val) rs905779372 0.00002
NM_183235.3(RAB27A):c.497A>G (p.Asn166Ser) rs576324438 0.00002
NM_183235.3(RAB27A):c.621G>A (p.Thr207=) rs764546558 0.00002
NM_183235.3(RAB27A):c.94G>C (p.Gly32Arg) rs778448317 0.00002
NM_183235.3(RAB27A):c.126G>A (p.Val42=) rs1356387047 0.00001
NM_183235.3(RAB27A):c.130A>G (p.Ile44Val) rs763762181 0.00001
NM_183235.3(RAB27A):c.148A>C (p.Arg50=) rs767963780 0.00001
NM_183235.3(RAB27A):c.149del (p.Arg50fs) rs770601673 0.00001
NM_183235.3(RAB27A):c.153+10A>G rs774986160 0.00001
NM_183235.3(RAB27A):c.153+12A>T rs770930489 0.00001
NM_183235.3(RAB27A):c.159C>T (p.Tyr53=) rs529088883 0.00001
NM_183235.3(RAB27A):c.165C>T (p.Ala55=) rs765203586 0.00001
NM_183235.3(RAB27A):c.175G>C (p.Asp59His) rs770949071 0.00001
NM_183235.3(RAB27A):c.209T>C (p.Leu70Pro) rs1371360853 0.00001
NM_183235.3(RAB27A):c.239+15G>C rs760864329 0.00001
NM_183235.3(RAB27A):c.240-5C>G rs750942183 0.00001
NM_183235.3(RAB27A):c.245G>A (p.Arg82His) rs140640177 0.00001
NM_183235.3(RAB27A):c.261G>A (p.Ala87=) rs779504249 0.00001
NM_183235.3(RAB27A):c.344-13C>G rs1171254261 0.00001
NM_183235.3(RAB27A):c.400_401del (p.Lys134fs) rs755338751 0.00001
NM_183235.3(RAB27A):c.454G>A (p.Ala152Thr) rs104894499 0.00001
NM_183235.3(RAB27A):c.473C>G (p.Pro158Arg) rs746081723 0.00001
NM_183235.3(RAB27A):c.520A>G (p.Ile174Val) rs751121802 0.00001
NM_183235.3(RAB27A):c.596T>C (p.Val199Ala) rs778390086 0.00001
NM_183235.3(RAB27A):c.627G>C (p.Gln209His) rs776080472 0.00001
NM_183235.3(RAB27A):c.652G>A (p.Ala218Thr) rs373190916 0.00001
NC_000015.10:g.(?_55223869)_(55224032_?)del
NC_000015.10:g.(?_55223869)_(55234954_?)del
NC_000015.10:g.(?_55228589)_(55234954_?)del
NC_000015.10:g.(?_55234762)_(55234954_?)del
NC_000015.10:g.55224013del
NC_000015.9:g.(?_55497685)_(55527152_?)del
NC_000015.9:g.(?_55497685)_(55527152_?)dup
NC_000015.9:g.(?_55497705)_(55727276_?)dup
NC_000015.9:g.(?_55520787)_(55522704_?)del
NC_000015.9:g.(?_55522579)_(55522704_?)del
NC_000015.9:g.(?_55526960)_(55613608_?)del
NM_183235.3(RAB27A):c.112T>C (p.Phe38Leu)
NM_183235.3(RAB27A):c.121A>C (p.Thr41Pro) rs1896186645
NM_183235.3(RAB27A):c.121A>G (p.Thr41Ala) rs1896186645
NM_183235.3(RAB27A):c.147_148del (p.Arg50fs)
NM_183235.3(RAB27A):c.153+14C>A
NM_183235.3(RAB27A):c.153G>A (p.Val51=) rs1331587655
NM_183235.3(RAB27A):c.154-6T>A rs1895989137
NM_183235.3(RAB27A):c.154-7G>A
NM_183235.3(RAB27A):c.154-7G>C
NM_183235.3(RAB27A):c.15T>C (p.Asp5=) rs952920589
NM_183235.3(RAB27A):c.167G>A (p.Ser56Asn) rs540520068
NM_183235.3(RAB27A):c.174G>A (p.Pro58=) rs910190895
NM_183235.3(RAB27A):c.181G>C (p.Ala61Pro)
NM_183235.3(RAB27A):c.187G>T (p.Gly63Cys) rs1895985830
NM_183235.3(RAB27A):c.18_19del (p.Tyr6_Asp7delinsTer) rs1555394745
NM_183235.3(RAB27A):c.192A>G (p.Arg64=)
NM_183235.3(RAB27A):c.195C>G (p.Gly65=) rs897453247
NM_183235.3(RAB27A):c.220G>C (p.Asp74His)
NM_183235.3(RAB27A):c.229G>A (p.Gly77Arg)
NM_183235.3(RAB27A):c.239+19T>C rs1481724263
NM_183235.3(RAB27A):c.239+3A>G rs1595695268
NM_183235.3(RAB27A):c.239+4T>G
NM_183235.3(RAB27A):c.239+5G>C rs1269990628
NM_183235.3(RAB27A):c.239+9T>A
NM_183235.3(RAB27A):c.239+9T>C
NM_183235.3(RAB27A):c.240-17T>G
NM_183235.3(RAB27A):c.240-2A>C
NM_183235.3(RAB27A):c.240-5C>T rs750942183
NM_183235.3(RAB27A):c.240-6T>G rs1895913515
NM_183235.3(RAB27A):c.240-8G>A rs928130000
NM_183235.3(RAB27A):c.240-9T>C rs758629648
NM_183235.3(RAB27A):c.251dup (p.Leu84fs) rs1895911610
NM_183235.3(RAB27A):c.254C>T (p.Thr85Met)
NM_183235.3(RAB27A):c.255G>A (p.Thr85=) rs147130708
NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro) rs104894497
NM_183235.3(RAB27A):c.259G>T (p.Ala87Ser)
NM_183235.3(RAB27A):c.260C>T (p.Ala87Val) rs201697259
NM_183235.3(RAB27A):c.273T>G (p.Asp91Glu)
NM_183235.3(RAB27A):c.288T>C (p.Leu96=)
NM_183235.3(RAB27A):c.289C>T (p.Leu97=) rs1354193730
NM_183235.3(RAB27A):c.295T>C (p.Phe99Leu) rs1371541124
NM_183235.3(RAB27A):c.2T>C (p.Met1Thr) rs141281020
NM_183235.3(RAB27A):c.307A>C (p.Asn103His) rs144492641
NM_183235.3(RAB27A):c.309T>C (p.Asn103=)
NM_183235.3(RAB27A):c.331A>G (p.Arg111Gly) rs2140972816
NM_183235.3(RAB27A):c.335del (p.Asn112fs) rs756644243
NM_183235.3(RAB27A):c.337T>C (p.Trp113Arg)
NM_183235.3(RAB27A):c.33G>A (p.Lys11=)
NM_183235.3(RAB27A):c.342A>T (p.Ile114=) rs1895903776
NM_183235.3(RAB27A):c.343+10A>G
NM_183235.3(RAB27A):c.343+11T>C
NM_183235.3(RAB27A):c.343+17C>T
NM_183235.3(RAB27A):c.343+3A>G rs1895903423
NM_183235.3(RAB27A):c.343+3_343+6del rs886051317
NM_183235.3(RAB27A):c.343+6del rs1277146219
NM_183235.3(RAB27A):c.344-7T>C
NM_183235.3(RAB27A):c.351A>G (p.Leu117=)
NM_183235.3(RAB27A):c.352C>T (p.Gln118Ter) rs104894500
NM_183235.3(RAB27A):c.355A>G (p.Met119Val)
NM_183235.3(RAB27A):c.35T>C (p.Phe12Ser)
NM_183235.3(RAB27A):c.365A>T (p.Tyr122Phe) rs1259290779
NM_183235.3(RAB27A):c.368G>A (p.Cys123Tyr)
NM_183235.3(RAB27A):c.377del (p.Pro126fs) rs1895696380
NM_183235.3(RAB27A):c.379G>A (p.Asp127Asn) rs2140958807
NM_183235.3(RAB27A):c.390G>A (p.Leu130=)
NM_183235.3(RAB27A):c.396A>G (p.Gly132=)
NM_183235.3(RAB27A):c.423_424del (p.Arg141fs) rs766575263
NM_183235.3(RAB27A):c.425T>C (p.Val142Ala) rs569221128
NM_183235.3(RAB27A):c.428T>C (p.Val143Ala)
NM_183235.3(RAB27A):c.431A>G (p.Lys144Arg)
NM_183235.3(RAB27A):c.435GGA[1] (p.Glu147del) rs758624653
NM_183235.3(RAB27A):c.439G>T (p.Glu147Ter) rs75258234
NM_183235.3(RAB27A):c.445A>G (p.Ile149Val) rs1197622697
NM_183235.3(RAB27A):c.460A>T (p.Lys154Ter) rs2140958324
NM_183235.3(RAB27A):c.465T>A (p.Tyr155Ter)
NM_183235.3(RAB27A):c.467+1G>C rs756071120
NM_183235.3(RAB27A):c.467+1G>T
NM_183235.3(RAB27A):c.468-14T>C
NM_183235.3(RAB27A):c.468-7C>A
NM_183235.3(RAB27A):c.476A>G (p.Tyr159Cys)
NM_183235.3(RAB27A):c.489T>C (p.Ser163=) rs2140891719
NM_183235.3(RAB27A):c.498T>G (p.Asn166Lys) rs1894613403
NM_183235.3(RAB27A):c.514_518del (p.Gln172fs) rs767481076
NM_183235.3(RAB27A):c.519A>G (p.Ala173=) rs1566893120
NM_183235.3(RAB27A):c.529C>T (p.Leu177Phe) rs2140891385
NM_183235.3(RAB27A):c.532C>T (p.Leu178=)
NM_183235.3(RAB27A):c.53_54del (p.Ser18fs) rs1595700039
NM_183235.3(RAB27A):c.542T>A (p.Ile181Lys)
NM_183235.3(RAB27A):c.561G>A (p.Arg187=)
NM_183235.3(RAB27A):c.568G>A (p.Asp190Asn)
NM_183235.3(RAB27A):c.57T>C (p.Gly19=)
NM_183235.3(RAB27A):c.592G>T (p.Val198Leu)
NM_183235.3(RAB27A):c.593T>C (p.Val198Ala) rs554967424
NM_183235.3(RAB27A):c.597G>A (p.Val199=) rs1894604106
NM_183235.3(RAB27A):c.612T>C (p.His204=)
NM_183235.3(RAB27A):c.613G>T (p.Ala205Ser) rs928880499
NM_183235.3(RAB27A):c.619dup (p.Thr207fs)
NM_183235.3(RAB27A):c.638_642del (p.Glu213fs)
NM_183235.3(RAB27A):c.662G>A (p.Cys221Tyr)
NM_183235.3(RAB27A):c.87T>C (p.Tyr29=)
NM_183235.3(RAB27A):c.91G>A (p.Asp31Asn)
NM_183235.3(RAB27A):c.93T>C (p.Asp31=)

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