ClinVar Miner

List of variants in gene RAB27A reported as benign for Griscelli syndrome type 2

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Gene type:
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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_183235.3(RAB27A):c.*1926T>A rs8028801 0.33811
NM_183235.3(RAB27A):c.*852C>T rs3179664 0.33294
NM_183235.3(RAB27A):c.*1931T>C rs6493770 0.27860
NM_183235.3(RAB27A):c.*14C>T rs1050931 0.27464
NM_183235.3(RAB27A):c.*1662A>T rs1061823 0.27450
NM_183235.3(RAB27A):c.*936C>A rs1061870 0.27449
NM_183235.3(RAB27A):c.*949A>G rs1061873 0.27447
NM_183235.3(RAB27A):c.*1594A>G rs1061821 0.27431
NM_183235.3(RAB27A):c.*1647T>G rs1061822 0.27431
NM_183235.3(RAB27A):c.*1742A>G rs1061824 0.27430
NM_183235.3(RAB27A):c.*1427G>A rs1061875 0.27307
NM_183235.3(RAB27A):c.*1418T>A rs1061874 0.27298
NM_183235.3(RAB27A):c.*2007G>A rs6493769 0.27179
NM_183235.3(RAB27A):c.*1392A>C rs12907749 0.11078
NM_183235.3(RAB27A):c.*2067C>G rs7168226 0.10411
NM_183235.3(RAB27A):c.*731G>T rs76097718 0.02129
NM_183235.3(RAB27A):c.-142-5A>G rs61436564 0.01642
NM_183235.3(RAB27A):c.*842G>A rs59982153 0.01444
NM_183235.3(RAB27A):c.*2349A>G rs76970799 0.01147
NM_183235.3(RAB27A):c.*387A>G rs73407873 0.00697
NM_183235.3(RAB27A):c.*472A>C rs116723038 0.00475
NM_183235.3(RAB27A):c.*1013T>C rs190724892 0.00420
NM_183235.3(RAB27A):c.594G>A (p.Val198=) rs141222527 0.00374
NM_183235.3(RAB27A):c.468-3C>T rs113895512 0.00237
NM_183235.3(RAB27A):c.399C>T (p.Asn133=) rs577958598 0.00036
NM_183235.3(RAB27A):c.167G>A (p.Ser56Asn) rs540520068

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