ClinVar Miner

List of variants in gene FANCF, LOC130005443 studied for developmental defect during embryogenesis

Included ClinVar conditions (2031):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_022725.4(FANCF):c.959C>T (p.Pro320Leu) rs45451294 0.01158
NM_022725.4(FANCF):c.1054T>C (p.Leu352=) rs61752917 0.00011
NM_022725.4(FANCF):c.1087C>T (p.Gln363Ter) rs201285915 0.00010
NM_022725.4(FANCF):c.970A>G (p.Lys324Glu) rs200416138 0.00008
NM_022725.4(FANCF):c.1048C>T (p.Leu350Phe) rs368170054 0.00004
NM_022725.4(FANCF):c.1002G>C (p.Ala334=) rs761698961 0.00003
NM_022725.4(FANCF):c.1012G>A (p.Asp338Asn) rs149687560 0.00003
NM_022725.4(FANCF):c.986T>C (p.Leu329Pro) rs766964364 0.00002
NM_022725.4(FANCF):c.1026T>C (p.Pro342=) rs745879868 0.00001
NM_022725.4(FANCF):c.1056A>C (p.Leu352Phe) rs754545069 0.00001
NM_022725.4(FANCF):c.1060C>T (p.Leu354Phe) rs1858614394 0.00001
NM_022725.4(FANCF):c.1078A>G (p.Arg360Gly) rs1357749824 0.00001
NM_022725.4(FANCF):c.984C>T (p.Ala328=) rs1858616188 0.00001
NM_022725.4(FANCF):c.993C>G (p.Thr331=) rs751274756 0.00001
NM_022725.4(FANCF):c.1001C>T (p.Ala334Val) rs772941983
NM_022725.4(FANCF):c.1006G>A (p.Asp336Asn) rs886048157
NM_022725.4(FANCF):c.1007A>G (p.Asp336Gly) rs2133796304
NM_022725.4(FANCF):c.1020A>G (p.Glu340=) rs1858615686
NM_022725.4(FANCF):c.1025C>T (p.Pro342Leu)
NM_022725.4(FANCF):c.1035C>T (p.Ser345=) rs1554963603
NM_022725.4(FANCF):c.1038C>T (p.Ile346=)
NM_022725.4(FANCF):c.1041G>A (p.Trp347Ter) rs587778343
NM_022725.4(FANCF):c.1044A>G (p.Thr348=) rs2133796228
NM_022725.4(FANCF):c.1048C>A (p.Leu350Ile)
NM_022725.4(FANCF):c.1063C>T (p.Arg355Cys) rs1858614312
NM_022725.4(FANCF):c.1064G>A (p.Arg355His) rs758175326
NM_022725.4(FANCF):c.1082A>G (p.Lys361Arg) rs2133796173
NM_022725.4(FANCF):c.1089A>C (p.Gln363His) rs1858613638
NM_022725.4(FANCF):c.940C>T (p.Leu314Phe) rs1858617232
NM_022725.4(FANCF):c.943dup (p.Cys315fs) rs1590540654
NM_022725.4(FANCF):c.952C>G (p.Pro318Ala)
NM_022725.4(FANCF):c.952C>T (p.Pro318Ser) rs746120363
NM_022725.4(FANCF):c.987G>C (p.Leu329=) rs2133796354
NM_022725.4(FANCF):c.992C>T (p.Thr331Ile) rs1250903119
NM_022725.4(FANCF):c.993C>A (p.Thr331=)
NM_022725.4(FANCF):c.994T>C (p.Cys332Arg)

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