ClinVar Miner

List of variants in gene F11 reported as likely pathogenic for not provided

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000128.4(F11):c.1288G>A (p.Ala430Thr) rs753909969 0.00006
NM_000128.4(F11):c.400C>T (p.Gln134Ter) rs756908183 0.00004
NM_000128.4(F11):c.422C>T (p.Thr141Met) rs200593979 0.00004
NM_000128.4(F11):c.3G>T (p.Met1Ile) rs755700350 0.00003
NM_000128.4(F11):c.1103G>C (p.Gly368Ala) rs748926718 0.00001
NM_000128.4(F11):c.1199C>T (p.Pro400Leu) rs533335580 0.00001
NM_000128.4(F11):c.595+3A>G rs933333847 0.00001
NC_000004.11:g.(?_187201202)_(187203901_?)del
NC_000004.12:g.(?_186287674)_(186287834_?)dup
NM_000128.4(F11):c.1102G>A (p.Gly368Arg)
NM_000128.4(F11):c.1136-1G>C rs941166157
NM_000128.4(F11):c.1288G>T (p.Ala430Ser)
NM_000128.4(F11):c.1480+1G>T
NM_000128.4(F11):c.1481-1G>T rs1057516506
NM_000128.4(F11):c.155dup (p.Tyr52Ter) rs1554081886
NM_000128.4(F11):c.1777A>G (p.Thr593Ala) rs1741382224
NM_000128.4(F11):c.1777A>T (p.Thr593Ser)
NM_000128.4(F11):c.188C>G (p.Ala63Gly) rs281875244
NM_000128.4(F11):c.218+1G>A rs1057516738
NM_000128.4(F11):c.485+1G>A rs2126731736
NM_000128.4(F11):c.485+2T>C
NM_000128.4(F11):c.486-2A>G rs1057516695
NM_000128.4(F11):c.55+2T>C rs1159780956
NM_000128.4(F11):c.688T>C (p.Cys230Arg)
NM_000128.4(F11):c.755+1G>A rs757275646
NM_000128.4(F11):c.755+1G>C
NM_000128.4(F11):c.756-1G>T rs2126756162
NM_000128.4(F11):c.865+1G>A rs1349655563
NM_000128.4(F11):c.865+2T>C
NM_000128.4(F11):c.977G>A (p.Arg326His) rs1554082932

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