ClinVar Miner

List of variants studied for cone-rod dystrophy by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001319074.4(RAX2):c.275C>T (p.Ser92Leu) rs754730849 0.00009
NM_001319074.4(RAX2):c.92G>A (p.Arg31His) rs373009969 0.00004
NM_000180.4(GUCY2D):c.2516C>G (p.Thr839Arg) rs61750174
NM_000350.3(ABCA4):c.1339C>T (p.Gln447Ter) rs886039882
NM_000350.3(ABCA4):c.1497G>A (p.Trp499Ter) rs1553193813
NM_000350.3(ABCA4):c.1676G>A (p.Trp559Ter) rs1570393848
NM_000350.3(ABCA4):c.1958G>T (p.Arg653Leu) rs141823837
NM_000350.3(ABCA4):c.3062del (p.Ala1021fs) rs1570373408
NM_000350.3(ABCA4):c.3093del (p.Gly1032fs) rs886044735
NM_000350.3(ABCA4):c.4567C>T (p.Gln1523Ter) rs1553188916
NM_000350.3(ABCA4):c.4696C>T (p.Leu1566Phe) rs377398404
NM_000350.3(ABCA4):c.5333T>A (p.Met1778Lys) rs748706582
NM_000350.3(ABCA4):c.5899-1G>T rs1553187160
NM_000350.3(ABCA4):c.6232A>C (p.Lys2078Gln) rs951379922
NM_000350.3(ABCA4):c.716G>A (p.Trp239Ter) rs755733328
NM_000554.6(CRX):c.898T>C (p.Ter300Gln) rs1599992745
NM_001256789.3(CACNA1F):c.3037-2A>G rs1057516199
NM_001349884.2(DRAM2):c.568G>T (p.Glu190Ter) rs1057516195
NM_001384910.1(GUCA1A):c.313_318del (p.Gly105_Cys106del) rs1582323230
NM_015072.5(TTLL5):c.2782dup (p.Met928fs) rs1555345387
NM_015072.5(TTLL5):c.987A>T (p.Glu329Asp) rs1555384338
NM_172240.3(POC1B):c.1332_1333dup (p.Thr445fs) rs1880707874
NM_172240.3(POC1B):c.52A>T (p.Lys18Ter) rs758725010

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