ClinVar Miner

List of variants in gene F8 reported as likely pathogenic for X-linked disease

Included ClinVar conditions (313):
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Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP
NC_000023.11:g.154931533_154938436del
NM_000132.3(F8):c.1443+5G>A rs1195283929
NM_000132.3(F8):c.1444-3C>G rs1603435027
NM_000132.3(F8):c.1468A>G (p.Arg490Gly) rs1603435026
NM_000132.3(F8):c.1538-18G>A rs1482306571
NM_000132.3(F8):c.1748A>G (p.Asn583Ser) rs782657516
NM_000132.3(F8):c.219C>G (p.Phe73Leu) rs1603436770
NM_000132.3(F8):c.3144G>A (p.Trp1048Ter) rs1060499784
NM_000132.3(F8):c.3169G>A (p.Glu1057Lys) rs28933673
NM_000132.3(F8):c.377A>G (p.Lys126Arg) rs1603436639
NM_000132.3(F8):c.382T>C (p.Ser128Pro) rs1603436638
NM_000132.3(F8):c.4767_4768insATAACCAA (p.Tyr1590fs) rs886039906
NM_000132.3(F8):c.5422C>T (p.Leu1808Phe) rs137852445
NM_000132.3(F8):c.5527G>A (p.Ala1843Thr) rs1603432996
NM_000132.3(F8):c.5696T>C (p.Phe1899Ser) rs1486435006
NM_000132.3(F8):c.5815G>C (p.Ala1939Pro) rs1603432979
NM_000132.3(F8):c.601G>A (p.Gly201Arg) rs1229954426
NM_000132.3(F8):c.605G>A (p.Ser202Asn) rs1603436218
NM_000132.3(F8):c.606T>G (p.Ser202Arg) rs1603436217
NM_000132.3(F8):c.6296T>A (p.Ile2099Asn) rs1603432784
NM_000132.3(F8):c.6301C>G (p.His2101Asp) rs1603432783
NM_000132.3(F8):c.6623A>G (p.Gln2208Arg) rs782198570
NM_000132.3(F8):c.83_87del (p.Ala28fs) rs1603437863
NM_000132.3(F8):c.984T>G (p.Phe328Leu) rs782668199

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