ClinVar Miner

List of variants in gene ARL6 reported as likely pathogenic for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001278293.3(ARL6):c.272T>C (p.Ile91Thr) rs137854907 0.00001
NM_001278293.3(ARL6):c.362G>A (p.Arg121His) rs765715798 0.00001
GRCh38/hg38 3q11.2(chr3:97790061-97794169)
NC_000003.11:g.(97483822_97485475)_(97487075_97499002)del
NC_000003.11:g.(97487075_97499002)_(97499065_97499458)dup
NM_001278293.3(ARL6):c.123+1G>A
NM_001278293.3(ARL6):c.254+1G>A
NM_001278293.3(ARL6):c.255-1_256del
NM_001278293.3(ARL6):c.350-13_350-2del rs1576465252
NM_001278293.3(ARL6):c.350-2A>C
NM_001278293.3(ARL6):c.479+1G>A rs1324418374

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