ClinVar Miner

List of variants in gene GFM1 reported as likely pathogenic for not provided

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_024996.7(GFM1):c.689+908G>A rs751069628 0.00011
NM_024996.7(GFM1):c.997_998+2del rs763084523 0.00004
NM_024996.7(GFM1):c.1369C>T (p.Pro457Ser) rs369399450 0.00003
NM_024996.7(GFM1):c.1181G>A (p.Arg394Gln) rs754435236 0.00002
NM_024996.7(GFM1):c.521A>G (p.Asn174Ser) rs119470018 0.00002
NM_024996.7(GFM1):c.1910-2A>T rs867885977 0.00001
NM_024996.7(GFM1):c.1922C>A (p.Ala641Glu) rs1390685552 0.00001
NM_024996.7(GFM1):c.455A>C (p.Gln152Pro) rs780319278 0.00001
NM_024996.7(GFM1):c.689+1G>A rs1449057162 0.00001
NM_024996.7(GFM1):c.748C>T (p.Arg250Trp) rs139430866 0.00001
NM_024996.7(GFM1):c.776A>G (p.Asn259Ser) rs375512235 0.00001
NM_024996.7(GFM1):c.81+1G>A rs1262218849 0.00001
NM_024996.7(GFM1):c.910A>G (p.Lys304Glu) rs760266828 0.00001
NC_000003.12:g.(?_158681985)_(158691477_?)del
NM_024996.7(GFM1):c.1221+1G>A
NM_024996.7(GFM1):c.1380+1G>A
NM_024996.7(GFM1):c.1380+1G>T rs1456835520
NM_024996.7(GFM1):c.1380+2T>G
NM_024996.7(GFM1):c.1519-1G>C
NM_024996.7(GFM1):c.1583C>T (p.Thr528Ile) rs863224035
NM_024996.7(GFM1):c.1601+1G>A rs748116978
NM_024996.7(GFM1):c.1602-2del
NM_024996.7(GFM1):c.166_169dup (p.Ser57Ter) rs752037355
NM_024996.7(GFM1):c.1765-2A>G rs2108102423
NM_024996.7(GFM1):c.2070+1G>A
NM_024996.7(GFM1):c.2070+1G>T
NM_024996.7(GFM1):c.2071-1G>C
NM_024996.7(GFM1):c.234+1G>T rs747437028
NM_024996.7(GFM1):c.235-1G>A
NM_024996.7(GFM1):c.248A>T (p.Asp83Val) rs1576721522
NM_024996.7(GFM1):c.368-1G>C
NM_024996.7(GFM1):c.368-2A>G
NM_024996.7(GFM1):c.572+1G>A
NM_024996.7(GFM1):c.573-1G>C rs2108009356
NM_024996.7(GFM1):c.689+2del
NM_024996.7(GFM1):c.749G>A (p.Arg250Gln) rs752251570
NM_024996.7(GFM1):c.82-2A>C rs1721712075
NM_024996.7(GFM1):c.841-168_844delinsCTTTCTTCTT
NM_024996.7(GFM1):c.841-520_878del rs2108018519
NM_024996.7(GFM1):c.998+1G>A
NM_024996.7(GFM1):c.998+2T>G
NM_024996.7(GFM1):c.999-1G>A rs757524798

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