ClinVar Miner

List of variants in gene LMAN1, LOC130062607 studied for Factor V and factor VIII, combined deficiency of, type 1

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_005570.4(LMAN1):c.116T>C (p.Val39Ala) rs33926449 0.09631
NM_005570.4(LMAN1):c.41G>A (p.Arg14Gln) rs1043302 0.04125
NM_005570.4(LMAN1):c.169C>G (p.Leu57Val) rs777224819 0.00013
NM_005570.4(LMAN1):c.27C>G (p.Leu9=) rs747955217 0.00010
NM_005570.4(LMAN1):c.106G>C (p.Asp36His) rs749081325 0.00001
NM_005570.4(LMAN1):c.89dup (p.Asp31fs) rs869312030

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