ClinVar Miner

List of variants in gene CRX reported by Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

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Gene type:
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000554.6(CRX):c.472G>A (p.Ala158Thr) rs61748445 0.02598
NM_000554.6(CRX):c.196G>A (p.Val66Ile) rs61748438 0.00231
NM_000554.6(CRX):c.28C>G (p.His10Asp) rs139340178 0.00060
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys) rs61748442 0.00032
NM_000554.6(CRX):c.590C>T (p.Pro197Leu) rs761290111 0.00006
NM_000554.6(CRX):c.335C>T (p.Ala112Val) rs61748439 0.00004
NM_000554.6(CRX):c.568C>T (p.Pro190Ser) rs151169551 0.00004
NM_000554.6(CRX):c.206G>A (p.Arg69His) rs775073228 0.00002
NM_000554.6(CRX):c.21G>A (p.Pro7=) rs772745666 0.00002
NM_000554.6(CRX):c.121C>T (p.Arg41Trp) rs104894672 0.00001
NM_000554.6(CRX):c.122G>A (p.Arg41Gln) rs61748436 0.00001
NM_000554.6(CRX):c.140C>T (p.Thr47Ile) rs1203670123 0.00001
NM_000554.6(CRX):c.20C>T (p.Pro7Leu) rs558522333 0.00001
NM_000554.6(CRX):c.120_121delinsTT (p.Arg41Trp)
NM_000554.6(CRX):c.122G>C (p.Arg41Pro)
NM_000554.6(CRX):c.147C>G (p.Ser49Arg)
NM_000554.6(CRX):c.158A>G (p.Glu53Gly)
NM_000554.6(CRX):c.561del (p.Ser188fs)
NM_000554.6(CRX):c.590del (p.Pro197fs) rs1968169100
NM_000554.6(CRX):c.793G>T (p.Asp265Tyr) rs751790087
NM_000554.6(CRX):c.816_818delinsAA (p.Thr273fs) rs2123743692

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