ClinVar Miner

List of variants reported as benign for Griscelli syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001382347.1(MYO5A):c.1543-13T>C rs1724623 0.92882
NM_001382347.1(MYO5A):c.1086A>C (p.Glu362Asp) rs1724577 0.91068
NM_001382347.1(MYO5A):c.2012+27A>G rs4774621 0.87830
NM_001382347.1(MYO5A):c.2526C>T (p.Ile842=) rs2414145 0.87556
NM_024101.7(MLPH):c.1221A>G (p.Glu407=) rs2271809 0.44998
NM_183235.3(RAB27A):c.*1926T>A rs8028801 0.33811
NM_183235.3(RAB27A):c.*852C>T rs3179664 0.33294
NM_024101.7(MLPH):c.1121T>C (p.Val374Ala) rs3817362 0.33210
NM_024101.7(MLPH):c.333-21A>G rs2292879 0.33192
NM_183235.3(RAB27A):c.*1931T>C rs6493770 0.27860
NM_183235.2(RAB27A):c.*2554C>T rs28564077 0.27672
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_001382347.1(MYO5A):c.3736C>T (p.Arg1246Cys) rs1058219 0.14826
NM_001382347.1(MYO5A):c.613-26A>G rs72623980 0.14538
NM_183235.3(RAB27A):c.*1392A>C rs12907749 0.11078
NM_183235.3(RAB27A):c.*2067C>G rs7168226 0.10411
NM_001382347.1(MYO5A):c.456-4A>G rs61363656 0.04815
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_001382347.1(MYO5A):c.5020C>A (p.Arg1674=) rs2290333 0.00045
NM_183235.3(RAB27A):c.399C>T (p.Asn133=) rs577958598 0.00036
NM_001382347.1(MYO5A):c.1543-84del rs71425744
NM_001382347.1(MYO5A):c.3858+12dup rs11386962
NM_183235.3(RAB27A):c.167G>A (p.Ser56Asn) rs540520068

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