ClinVar Miner

List of variants in gene MLPH studied for Griscelli syndrome type 3

Included ClinVar conditions (1):
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_024101.7(MLPH):c.1221A>G (p.Glu407=) rs2271809 0.44998
NM_024101.7(MLPH):c.1121T>C (p.Val374Ala) rs3817362 0.33210
NM_024101.7(MLPH):c.522G>A (p.Glu174=) rs181807989 0.00108
NM_024101.7(MLPH):c.70C>T (p.Arg24Ter) rs140470472 0.00002
NM_024101.7(MLPH):c.103C>T (p.Arg35Trp) rs119473031 0.00001
NM_024101.7(MLPH):c.104G>A (p.Arg35Gln) rs786205551 0.00001
NM_024101.7(MLPH):c.1135_1136del (p.Asp379fs)
NM_024101.7(MLPH):c.1552C>G (p.Arg518Gly)
NM_024101.7(MLPH):c.292G>T (p.Glu98Ter)
NM_024101.7(MLPH):c.332+1G>T rs2106291953
NM_024101.7(MLPH):c.523GCCCAG[4] (p.Gln180_Pro181insAlaGln)
NM_024101.7(MLPH):c.987del (p.Lys330fs) rs786205641

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