ClinVar Miner

List of variants in gene GUCA1A, GUCA1ANB-GUCA1A studied for retinitis pigmentosa

Included ClinVar conditions (154):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001384910.1(GUCA1A):c.296A>G (p.Tyr99Cys) rs104893967
NM_001384910.1(GUCA1A):c.431A>T (p.Asp144Val) rs1768035083
NM_001384910.1(GUCA1A):c.442G>C (p.Asp148His)
NM_001384910.1(GUCA1A):c.443A>C (p.Asp148Ala) rs1554186472

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