ClinVar Miner

List of variants reported as benign for Griscelli syndrome type 2 by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
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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