ClinVar Miner

List of variants in gene DRAM2 studied for cone-rod dystrophy

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001349884.2(DRAM2):c.693+14A>G rs325916 0.44754
NM_001349884.2(DRAM2):c.601-9A>G rs325917 0.24497
NM_001349884.2(DRAM2):c.737T>C (p.Leu246Pro) rs148031211 0.00032
NM_001349884.2(DRAM2):c.494G>A (p.Trp165Ter) rs201422368 0.00004
NM_001349884.2(DRAM2):c.131G>A (p.Ser44Asn) rs786205665 0.00001
NM_001349884.2(DRAM2):c.140del (p.Gly47fs) rs746559651
NM_001349884.2(DRAM2):c.362A>T (p.His121Leu) rs786205664
NM_001349884.2(DRAM2):c.517+5C>A
NM_001349884.2(DRAM2):c.568G>T (p.Glu190Ter) rs1057516195
NM_001349884.2(DRAM2):c.61GCT[1] (p.Ala22del) rs786205661
NM_001349884.2(DRAM2):c.80dup (p.Tyr27Ter) rs2101086076
NM_001349884.2(DRAM2):c.98_99del (p.Leu33fs) rs2101085885

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