ClinVar Miner

List of variants studied for perceptual disorders by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr) rs150774447 0.00004
NM_004249.4(RAB28):c.651T>G (p.Cys217Trp) rs751163782 0.00001
NM_032656.4(DHX37):c.1145A>G (p.Asp382Gly) rs1424699115 0.00001
NM_000350.2(ABCA4):c.[302+68C>T;4539+2028C>T]
NM_000350.3(ABCA4):c.6148-698_6670del
NM_000350.3(ABCA4):c.6729+5_6729+19del rs749526785
NM_000554.6(CRX):c.449C>G (p.Ser150Ter) rs864309706
NM_000554.6(CRX):c.660del (p.Tyr221fs) rs864309707
NM_000554.6(CRX):c.661del (p.Tyr221fs) rs864309708
NM_001017979.3(RAB28):c.172+1G>C rs875989778
NM_001039803.3(CDK20):c.564G>A (p.Trp188Ter) rs1057519438
NM_001098.3(ACO2):c.2338_2339del (p.Gln780fs) rs1114167284
NM_002114.4(HIVEP1):c.4089G>C (p.Met1363Ile) rs776300630
NM_015506.2(MMACHC):c.[271dupA];[482G>A]
NM_138615.3(DHX30):c.1685A>G (p.His562Arg) rs1060499733

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