ClinVar Miner

List of variants in gene combination ALMS1, LOC126806252 reported as likely risk allele by Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001378454.1(ALMS1):c.12103G>A (p.Ala4035Thr)	rs757364858	0.00006
NM_001378454.1(ALMS1):c.12164G>A (p.Arg4055Gln)	rs752714698	0.00001

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