ClinVar Miner

List of variants in gene MRPL49 studied for Perrault syndrome 1

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_004927.4(MRPL49):c.125_126del (p.Val42fs)
NM_004927.4(MRPL49):c.262C>T (p.Arg88Cys)
NM_004927.4(MRPL49):c.263G>A (p.Arg88His)
NM_004927.4(MRPL49):c.275A>C (p.His92Pro)

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