ClinVar Miner

List of variants in gene ATP6V1E1 studied for Autosomal recessive cutis laxa type 2C

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Gene type: Distinguish antisense genes from sense genes
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001696.4(ATP6V1E1):c.383T>C (p.Leu128Pro)	rs1060505031
NM_001696.4(ATP6V1E1):c.634C>T (p.Arg212Trp)	rs1028534806
NM_001696.4(ATP6V1E1):c.664A>T (p.Arg222Trp)

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