ClinVar Miner

List of variants in gene FERMT1 reported as benign for obsolete hereditary acrokeratotic poikiloderma of Kindler-Weary

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_017671.5(FERMT1):c.*1777dup rs397756084 1.00000
NM_017671.4(FERMT1):c.-666G>A rs2295433 0.70890
NM_017671.5(FERMT1):c.1594-28A>G rs2232077 0.69211
NM_017671.5(FERMT1):c.-18-11T>G rs2273423 0.60441
NM_017671.5(FERMT1):c.114T>C (p.His38=) rs10373 0.51823
NM_017671.5(FERMT1):c.1577G>A (p.Arg526Lys) rs2232074 0.41183
NM_017671.5(FERMT1):c.1575A>G (p.Lys525=) rs2232073 0.41177
NM_017671.5(FERMT1):c.152-4G>A rs2295435 0.39838
NM_017671.5(FERMT1):c.1695T>C (p.Phe565=) rs753927 0.36989
NM_017671.5(FERMT1):c.-105C>G rs6139922 0.29734
NM_017671.5(FERMT1):c.*2069T>C rs1059396 0.27473
NM_017671.5(FERMT1):c.*1464C>T rs1059391 0.23405
NM_017671.5(FERMT1):c.*2058C>T rs12945 0.22416
NM_017671.5(FERMT1):c.1674G>A (p.Ala558=) rs2232079 0.14462
NM_017671.5(FERMT1):c.*1155T>C rs6139909 0.14139
NM_017671.5(FERMT1):c.211C>T (p.Leu71=) rs1056141 0.10325
NM_017671.5(FERMT1):c.479T>C (p.Ile160Thr) rs16991866 0.09972
NM_017671.5(FERMT1):c.*902A>G rs6053878 0.09221
NM_017671.5(FERMT1):c.532+8T>C rs41308641 0.08888
NM_017671.5(FERMT1):c.763C>T (p.Arg255Cys) rs62200482 0.06354
NM_017671.4(FERMT1):c.-366C>G rs2281533 0.05984
NM_017671.5(FERMT1):c.1264+14A>G rs111975159 0.05267
NM_017671.5(FERMT1):c.1153C>T (p.Leu385=) rs35413391 0.05264
NM_017671.4(FERMT1):c.-301C>T rs116782539 0.04435
NM_017671.5(FERMT1):c.*2016T>A rs6117066 0.04406
NM_017671.5(FERMT1):c.234C>T (p.Asp78=) rs57272794 0.03636
NM_017671.5(FERMT1):c.722T>C (p.Val241Ala) rs55666319 0.03439
NM_017671.5(FERMT1):c.-28T>C rs7273551 0.02930
NM_017671.5(FERMT1):c.*193C>T rs16991740 0.02771
NM_017671.5(FERMT1):c.*194G>A rs114990723 0.01786
NM_017671.5(FERMT1):c.*72G>T rs2232084 0.01663
NM_017671.5(FERMT1):c.1884C>T (p.Asn628=) rs2232083 0.00821
NM_017671.5(FERMT1):c.*1195A>G rs111645039 0.00763
NM_017671.5(FERMT1):c.*1386A>T rs144516379 0.00742
NM_017671.5(FERMT1):c.*1458C>T rs149665640 0.00733
NM_017671.5(FERMT1):c.1416G>A (p.Ser472=) rs148992845 0.00616
NM_017671.5(FERMT1):c.467A>G (p.Asn156Ser) rs138019177 0.00558
NM_017671.5(FERMT1):c.1861-8T>C rs2232082 0.00523
NM_017671.5(FERMT1):c.1600G>A (p.Ala534Thr) rs2232078 0.00503
NM_017671.5(FERMT1):c.51C>T (p.Arg17=) rs147105196 0.00502
NM_017671.5(FERMT1):c.*1358T>G rs113096626 0.00399
NM_017671.4(FERMT1):c.-456C>A rs80350329 0.00220
NM_017671.4(FERMT1):c.-514T>C rs73604924
NM_017671.4(FERMT1):c.-646G>C rs2295432

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