ClinVar Miner

List of variants in gene MYO5A studied for Griscelli syndrome type 1

Included ClinVar conditions (1):
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Total variants: 6
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MYO5A, 47-BP INS, NT4634
NM_000259.3(MYO5A):c.1543-84del rs71425744
NM_000259.3(MYO5A):c.2012+1G>T rs769021352
NM_000259.3(MYO5A):c.2332C>T (p.Arg778Ter) rs764371254
NM_000259.3(MYO5A):c.3098T>G (p.Leu1033Trp) rs751411629
NM_000259.3(MYO5A):c.3736C>T (p.Arg1246Cys) rs1058219

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