ClinVar Miner

List of variants reported as uncertain significance for Griscelli syndrome by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 70
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HGVS dbSNP gnomAD frequency
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.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.424G>C (p.Val142Leu) rs538323738 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.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.275C>T (p.Ala92Val) rs137960099 0.00003
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.94G>C (p.Gly32Arg) rs778448317 0.00002
NM_183235.3(RAB27A):c.130A>G (p.Ile44Val) rs763762181 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.240-5C>G rs750942183 0.00001
NM_183235.3(RAB27A):c.245G>A (p.Arg82His) rs140640177 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_000015.9:g.(?_55497685)_(55527152_?)dup
NC_000015.9:g.(?_55497705)_(55727276_?)dup
NM_183235.3(RAB27A):c.112T>C (p.Phe38Leu)
NM_183235.3(RAB27A):c.153G>A (p.Val51=) rs1331587655
NM_183235.3(RAB27A):c.154-6T>A rs1895989137
NM_183235.3(RAB27A):c.181G>C (p.Ala61Pro)
NM_183235.3(RAB27A):c.187G>T (p.Gly63Cys) rs1895985830
NM_183235.3(RAB27A):c.239+4T>G
NM_183235.3(RAB27A):c.239+5G>C rs1269990628
NM_183235.3(RAB27A):c.254C>T (p.Thr85Met)
NM_183235.3(RAB27A):c.273T>G (p.Asp91Glu)
NM_183235.3(RAB27A):c.295T>C (p.Phe99Leu) rs1371541124
NM_183235.3(RAB27A):c.307A>C (p.Asn103His) rs144492641
NM_183235.3(RAB27A):c.331A>G (p.Arg111Gly) rs2140972816
NM_183235.3(RAB27A):c.337T>C (p.Trp113Arg)
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.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.379G>A (p.Asp127Asn) rs2140958807
NM_183235.3(RAB27A):c.425T>C (p.Val142Ala) rs569221128
NM_183235.3(RAB27A):c.431A>G (p.Lys144Arg)
NM_183235.3(RAB27A):c.435GGA[1] (p.Glu147del) rs758624653
NM_183235.3(RAB27A):c.445A>G (p.Ile149Val) rs1197622697
NM_183235.3(RAB27A):c.498T>G (p.Asn166Lys) rs1894613403
NM_183235.3(RAB27A):c.529C>T (p.Leu177Phe) rs2140891385
NM_183235.3(RAB27A):c.542T>A (p.Ile181Lys)
NM_183235.3(RAB27A):c.568G>A (p.Asp190Asn)
NM_183235.3(RAB27A):c.592G>T (p.Val198Leu)
NM_183235.3(RAB27A):c.613G>T (p.Ala205Ser) rs928880499
NM_183235.3(RAB27A):c.619dup (p.Thr207fs)
NM_183235.3(RAB27A):c.662G>A (p.Cys221Tyr)
NM_183235.3(RAB27A):c.91G>A (p.Asp31Asn)

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