ClinVar Miner

List of variants reported as pathogenic for Griscelli syndrome by OMIM

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP
MYO5A, 47-BP INS, NT4634
MYO5A, F-EXON DEL
NM_000259.3(MYO5A):c.2332C>T (p.Arg778Ter)
NM_004580.4(RAB27A):c.259G>C (p.Ala87Pro) rs104894497
NM_024101.6(MLPH):c.103C>T (p.Arg35Trp) rs119473031
NM_183235.2(RAB27A):c.217T>G (p.Trp73Gly) rs28938176
NM_183235.2(RAB27A):c.352C>T (p.Gln118Ter) rs104894500
NM_183235.2(RAB27A):c.389T>C (p.Leu130Pro) rs104894498
NM_183235.2(RAB27A):c.454G>C (p.Ala152Pro) rs104894499
RAB27A, 2-BP DEL, 51CT
RAB27A, 550C-T
RAB27A, 67.5-KB DEL
RAB27A, INV3DS, A-G, +3
RAB27A, IVS5, G-C, +1

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