ClinVar Miner

List of variants studied for perceptual disorders by Kids Neuroscience Centre, Sydney Children's Hospitals Network

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_012106.4(ARL2BP):c.293+5G>A rs751471386 0.00001
NM_000322.5(PRPH2):c.581+5G>A rs2152010844
NM_001127453.2(GSDME):c.1183+5G>A rs777359423
NM_022124.6(CDH23):c.1291-1G>A rs2132596686
NM_022124.6(CDH23):c.6555G>T (p.Glu2185Asp) rs2132954257

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