ClinVar Miner

List of variants in gene combination LOC130008357, POC1B, POC1B-GALNT4 reported as uncertain significance for Cone-rod dystrophy 20

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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: 3

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HGVS	dbSNP	gnomAD frequency
NM_172240.3(POC1B):c.10G>A (p.Ala4Thr)	rs199806871	0.00032
NM_172240.3(POC1B):c.15+5G>C
NM_172240.3(POC1B):c.8C>T (p.Ser3Leu)

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