ClinVar Miner

List of variants reported as likely pathogenic for Leber congenital amaurosis 13 by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_152443.3(RDH12):c.407C>T (p.Thr136Ile) rs1206574200 0.00001
NC_000014.8:g.(?_68195898)_(68200575_?)del
NM_152443.3(RDH12):c.146C>A (p.Thr49Lys) rs28940314
NM_152443.3(RDH12):c.152T>A (p.Ile51Asn) rs104894473
NM_152443.3(RDH12):c.157_187+178del rs1594865068
NM_152443.3(RDH12):c.178G>C (p.Ala60Pro) rs749038454
NM_152443.3(RDH12):c.188-1G>A rs2140142183
NM_152443.3(RDH12):c.188-2A>G
NM_152443.3(RDH12):c.449-2A>G rs2140145138
NM_152443.3(RDH12):c.559G>A (p.Asp187Asn)
NM_152443.3(RDH12):c.617C>A (p.Ala206Asp)
NM_152443.3(RDH12):c.648_658+20del rs878853341
NM_152443.3(RDH12):c.659-1G>A
NM_152443.3(RDH12):c.659-2A>C rs2038231425
NM_152443.3(RDH12):c.659-2A>T rs2038231425
NM_152443.3(RDH12):c.69-1G>A rs373279009
NM_152443.3(RDH12):c.716G>A (p.Arg239Gln) rs1239043055
NM_152443.3(RDH12):c.912G>A (p.Trp304Ter) rs2038317129

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