ClinVar Miner

List of variants in gene LMAN2L reported as uncertain significance for autosomal recessive disease

Included ClinVar conditions (1204):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_030805.4(LMAN2L):c.652G>A (p.Val218Ile) rs753445500 0.00002
NM_030805.4(LMAN2L):c.187+4A>C rs2078596924 0.00001
NM_030805.4(LMAN2L):c.785-273A>G rs1469575298 0.00001
NM_030805.4(LMAN2L):c.424+11C>T rs2078470068
NM_030805.4(LMAN2L):c.424+1G>A
NM_030805.4(LMAN2L):c.46C>A (p.Arg16=) rs1028008100
NM_030805.4(LMAN2L):c.776A>T (p.Asp259Val) rs2077918865

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