ClinVar Miner

List of variants studied for Griscelli syndrome type 2 by Fulgent Genetics, Fulgent Genetics

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_183235.3(RAB27A):c.543A>G (p.Ile181Met)	rs139025012	0.00009
NM_183235.3(RAB27A):c.213G>T (p.Gln71His)	rs776920896	0.00006
NM_183235.3(RAB27A):c.149del (p.Arg50fs)	rs770601673	0.00001
NM_183235.3(RAB27A):c.400_401del (p.Lys134fs)	rs755338751	0.00001

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