ClinVar Miner

List of variants studied for perceptual disorders by Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu) rs761911901 0.00003
NM_006017.3(PROM1):c.730C>T (p.Arg244Ter) rs373331232 0.00001
NM_004750.5(CRLF1):c.397+1G>A rs137853932
NM_020461.4(TUBGCP6):c.3267_3672del (p.Ser1089fs)
NM_020461.4(TUBGCP6):c.5275_5285del (p.Pro1759fs) rs757636489

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