List of variants reported as pathogenic for Griscelli syndrome type 1

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001382347.1(MYO5A):c.2332C>T (p.Arg778Ter)	rs764371254	0.00001
MYO5A, 47-BP INS, NT4634
NM_001382347.1(MYO5A):c.2012+1G>T	rs769021352
NM_001382347.1(MYO5A):c.2110C>T (p.Gln704Ter)	rs2141121140
NM_001382347.1(MYO5A):c.463C>T (p.Arg155Ter)	rs2043479059

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