ClinVar Miner

List of variants studied for Griscelli syndrome

Included ClinVar conditions (4):
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Minimum conflict level:
ClinVar version:
Total variants: 95
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HGVS dbSNP
MYO5A, 47-BP INS, NT4634
MYO5A, F-EXON DEL
NC_000015.9:g.(?_55516067)_(55516230_?)del
NC_000015.9:g.(?_55516067)_(55527152_?)del
NC_000015.9:g.(?_55526960)_(55527152_?)del
NM_000259.3(MYO5A):c.2012+1G>T
NM_000259.3(MYO5A):c.2332C>T (p.Arg778Ter)
NM_000259.3(MYO5A):c.3098T>G (p.Leu1033Trp)
NM_000259.3(MYO5A):c.3736C>T (p.Arg1246Cys) rs1058219
NM_024101.7(MLPH):c.103C>T (p.Arg35Trp) rs119473031
NM_024101.7(MLPH):c.70C>T (p.Arg24Ter)
NM_183235.2(RAB27A):c.*2554C>T rs28564077
NM_183235.3(RAB27A):c.*1156T>G rs747438491
NM_183235.3(RAB27A):c.*1170T>G rs574506558
NM_183235.3(RAB27A):c.*121A>G rs886051316
NM_183235.3(RAB27A):c.*1296T>G rs560689599
NM_183235.3(RAB27A):c.*1392A>C rs12907749
NM_183235.3(RAB27A):c.*1418T>A rs1061874
NM_183235.3(RAB27A):c.*1427G>A rs1061875
NM_183235.3(RAB27A):c.*1473T>C rs568895039
NM_183235.3(RAB27A):c.*1485G>A rs886051308
NM_183235.3(RAB27A):c.*14C>T rs1050931
NM_183235.3(RAB27A):c.*1594A>G rs1061821
NM_183235.3(RAB27A):c.*1612dup rs886051307
NM_183235.3(RAB27A):c.*162G>C rs886051315
NM_183235.3(RAB27A):c.*1647T>G rs1061822
NM_183235.3(RAB27A):c.*1662A>T rs1061823
NM_183235.3(RAB27A):c.*1672T>C rs886051306
NM_183235.3(RAB27A):c.*1678T>A rs540548388
NM_183235.3(RAB27A):c.*1742A>G rs1061824
NM_183235.3(RAB27A):c.*1863C>T rs566144766
NM_183235.3(RAB27A):c.*1878T>C rs552625680
NM_183235.3(RAB27A):c.*1915_*1920delinsTAAATAAAT rs886051305
NM_183235.3(RAB27A):c.*1922_*1923insTAA rs555244731
NM_183235.3(RAB27A):c.*1926T>A rs8028801
NM_183235.3(RAB27A):c.*1931T>C rs6493770
NM_183235.3(RAB27A):c.*2007G>A rs6493769
NM_183235.3(RAB27A):c.*2067C>G rs7168226
NM_183235.3(RAB27A):c.*2241_*2247del rs565165091
NM_183235.3(RAB27A):c.*2334C>A rs886051304
NM_183235.3(RAB27A):c.*2349A>G rs76970799
NM_183235.3(RAB27A):c.*387A>G rs73407873
NM_183235.3(RAB27A):c.*388G>C rs886051314
NM_183235.3(RAB27A):c.*425G>A rs886051313
NM_183235.3(RAB27A):c.*561A>T rs886051312
NM_183235.3(RAB27A):c.*723C>T rs886051311
NM_183235.3(RAB27A):c.*730T>C rs886051310
NM_183235.3(RAB27A):c.*731G>T rs76097718
NM_183235.3(RAB27A):c.*842G>A rs59982153
NM_183235.3(RAB27A):c.*852C>T rs3179664
NM_183235.3(RAB27A):c.*858G>A rs886051309
NM_183235.3(RAB27A):c.*936C>A rs1061870
NM_183235.3(RAB27A):c.*949A>G rs1061873
NM_183235.3(RAB27A):c.-142-46A>G rs8031271
NM_183235.3(RAB27A):c.-142-5A>G rs61436564
NM_183235.3(RAB27A):c.-58A>G rs572723752
NM_183235.3(RAB27A):c.11G>T (p.Gly4Val)
NM_183235.3(RAB27A):c.149del (p.Arg50fs) rs770601673
NM_183235.3(RAB27A):c.167G>A (p.Ser56Asn) rs540520068
NM_183235.3(RAB27A):c.17A>G (p.Tyr6Cys) rs145253993
NM_183235.3(RAB27A):c.18_19del (p.Tyr6_Asp7delinsTer) rs1555394745
NM_183235.3(RAB27A):c.195C>G (p.Gly65=) rs897453247
NM_183235.3(RAB27A):c.213G>T (p.Gln71His) rs776920896
NM_183235.3(RAB27A):c.217T>G (p.Trp73Gly) rs28938176
NM_183235.3(RAB27A):c.239+3A>G
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys) rs753966933
NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro) rs104894497
NM_183235.3(RAB27A):c.275C>T (p.Ala92Val)
NM_183235.3(RAB27A):c.2T>C (p.Met1Thr) rs141281020
NM_183235.3(RAB27A):c.343+3_343+6del rs886051317
NM_183235.3(RAB27A):c.343+6del rs1277146219
NM_183235.3(RAB27A):c.352C>T (p.Gln118Ter) rs104894500
NM_183235.3(RAB27A):c.365A>T (p.Tyr122Phe) rs1259290779
NM_183235.3(RAB27A):c.389T>C (p.Leu130Pro) rs104894498
NM_183235.3(RAB27A):c.418C>G (p.Gln140Glu) rs150463407
NM_183235.3(RAB27A):c.419_420AG[2] (p.Arg141fs)
NM_183235.3(RAB27A):c.454G>C (p.Ala152Pro) rs104894499
NM_183235.3(RAB27A):c.467+1G>C
NM_183235.3(RAB27A):c.468-3C>T rs113895512
NM_183235.3(RAB27A):c.514_518del (p.Gln172fs) rs767481076
NM_183235.3(RAB27A):c.518C>G (p.Ala173Gly)
NM_183235.3(RAB27A):c.51_52CT[1] (p.Ser18fs)
NM_183235.3(RAB27A):c.526A>T (p.Met176Leu) rs757760608
NM_183235.3(RAB27A):c.543A>G (p.Ile181Met)
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter) rs200956636
NM_183235.3(RAB27A):c.551G>A (p.Arg184Gln)
NM_183235.3(RAB27A):c.559C>T (p.Arg187Trp)
NM_183235.3(RAB27A):c.594G>A (p.Val198=) rs141222527
NM_183235.3(RAB27A):c.620C>T (p.Thr207Met)
NM_183235.3(RAB27A):c.621G>A (p.Thr207=)
NM_183235.3(RAB27A):c.94G>C (p.Gly32Arg)
RAB27A, 550C-T
RAB27A, 67.5-KB DEL
RAB27A, IVS5, G-C, +1
Single allele

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