ClinVar Miner

List of variants in gene RAB27A reported as benign for Griscelli syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_183235.2(RAB27A):c.*2554C>T rs28564077
NM_183235.3(RAB27A):c.*1418T>A rs1061874
NM_183235.3(RAB27A):c.*1427G>A rs1061875
NM_183235.3(RAB27A):c.*14C>T rs1050931
NM_183235.3(RAB27A):c.*1594A>G rs1061821
NM_183235.3(RAB27A):c.*1647T>G rs1061822
NM_183235.3(RAB27A):c.*1662A>T rs1061823
NM_183235.3(RAB27A):c.*1742A>G rs1061824
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.*852C>T rs3179664
NM_183235.3(RAB27A):c.*936C>A rs1061870
NM_183235.3(RAB27A):c.*949A>G rs1061873
NM_183235.3(RAB27A):c.167G>A (p.Ser56Asn) rs540520068
NM_183235.3(RAB27A):c.468-3C>T rs113895512
NM_183235.3(RAB27A):c.594G>A (p.Val198=) rs141222527

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