ClinVar Miner

List of variants in gene LOC130003370, OPTN studied for anterior horn disorder

Included ClinVar conditions (149):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_021980.4(OPTN):c.-161T>C rs71492279 0.36888
NM_001008212.2(OPTN):c.-215G>A rs11548142 0.18691
NM_001008212.2(OPTN):c.-255C>G rs2580915 0.01192
NM_001008212.2(OPTN):c.-250C>A rs886046818 0.00088
NM_001008212.2(OPTN):c.-172G>A rs1453573477 0.00005
NM_001008212.2(OPTN):c.-272G>T rs886046817 0.00001
NM_001008212.2(OPTN):c.-274C>A rs552494483 0.00001
NM_001008212.2(OPTN):c.-164+13A>G rs556917167
NM_001008212.2(OPTN):c.-184C>G rs955585590
NM_021980.4(OPTN):c.-187G>T rs553169923
NM_021980.4(OPTN):c.-227G>T rs3814657
NM_021980.4(OPTN):c.-232G>T rs886046816

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