ClinVar Miner

List of variants reported as likely pathogenic for cone dystrophy 3 by SIB Swiss Institute of Bioinformatics

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001384910.1(GUCA1A):c.250C>T (p.Leu84Phe) rs869320709
NM_001384910.1(GUCA1A):c.256G>C (p.Gly86Arg) rs1768014561
NM_001384910.1(GUCA1A):c.295T>A (p.Tyr99Asn) rs1768016404
NM_001384910.1(GUCA1A):c.296A>C (p.Tyr99Ser) rs104893967
NM_001384910.1(GUCA1A):c.299A>G (p.Asp100Gly) rs1768016995
NM_001384910.1(GUCA1A):c.300T>A (p.Asp100Glu) rs1319646518
NM_001384910.1(GUCA1A):c.312C>A (p.Asn104Lys) rs749013749
NM_001384910.1(GUCA1A):c.320T>C (p.Ile107Thr) rs869320710
NM_001384910.1(GUCA1A):c.332A>T (p.Glu111Val) rs1554186385
NM_001384910.1(GUCA1A):c.431A>G (p.Asp144Gly) rs1768035083

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