ClinVar Miner

List of variants studied for Factor V and factor VIII, combined deficiency of, type 1 by OMIM

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_005570.4(LMAN1):c.1149+2T>C	rs869312031
NM_005570.4(LMAN1):c.1356del (p.Asn452_Leu453insTer)	rs869312033
NM_005570.4(LMAN1):c.2T>C (p.Met1Thr)	rs121909253
NM_005570.4(LMAN1):c.796del (p.Gln266fs)	rs869312032
NM_005570.4(LMAN1):c.89dup (p.Asp31fs)	rs869312030

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