ClinVar Miner

List of variants in gene RAB27A reported as pathogenic for albinism

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NC_000015.9:g.(?_55516067)_(55516230_?)del
NC_000015.9:g.(?_55516067)_(55527152_?)del
NC_000015.9:g.(?_55526960)_(55527152_?)del
NM_183235.3(RAB27A):c.149del (p.Arg50fs) rs770601673
NM_183235.3(RAB27A):c.18_19del (p.Tyr6_Asp7delinsTer) rs1555394745
NM_183235.3(RAB27A):c.217T>G (p.Trp73Gly) rs28938176
NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro) rs104894497
NM_183235.3(RAB27A):c.2T>C (p.Met1Thr) rs141281020
NM_183235.3(RAB27A):c.352C>T (p.Gln118Ter) rs104894500
NM_183235.3(RAB27A):c.389T>C (p.Leu130Pro) rs104894498
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.550C>T (p.Arg184Ter) rs200956636
RAB27A, 2-BP DEL, 51CT
RAB27A, 550C-T
RAB27A, 67.5-KB DEL
RAB27A, INV3DS, A-G, +3
RAB27A, IVS5, G-C, +1
Single allele

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