ClinVar Miner

List of variants in gene GFM1 reported as uncertain significance by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_024996.7(GFM1):c.491G>A (p.Arg164His) rs200727254 0.00021
NM_024996.7(GFM1):c.490C>T (p.Arg164Cys) rs182569165 0.00019
NM_024996.7(GFM1):c.1091G>A (p.Arg364Gln) rs140490191 0.00008
NM_024996.7(GFM1):c.1948A>G (p.Met650Val) rs147847472 0.00008
NM_024996.7(GFM1):c.1198C>T (p.Arg400Cys) rs374335959 0.00005
NM_024996.7(GFM1):c.898G>A (p.Ala300Thr) rs753396715 0.00005
NM_024996.7(GFM1):c.1544C>T (p.Pro515Leu) rs752809047 0.00004
NM_024996.7(GFM1):c.1585A>G (p.Ile529Val) rs754010121 0.00004
NM_024996.7(GFM1):c.97T>C (p.Cys33Arg) rs762132920 0.00004
NM_024996.7(GFM1):c.1738A>G (p.Lys580Glu) rs370262627 0.00003
NM_024996.7(GFM1):c.703T>A (p.Tyr235Asn) rs760959060 0.00003
NM_024996.7(GFM1):c.840+4A>G rs538662087 0.00003
NM_024996.7(GFM1):c.1577G>A (p.Arg526Gln) rs561293948 0.00002
NM_024996.7(GFM1):c.1626A>G (p.Gln542=) rs139042191 0.00002
NM_024996.7(GFM1):c.595G>T (p.Ala199Ser) rs759781532 0.00002
NM_024996.7(GFM1):c.1180C>T (p.Arg394Trp) rs183140307 0.00001
NM_024996.7(GFM1):c.1363A>G (p.Met455Val) rs769036266 0.00001
NM_024996.7(GFM1):c.1468G>A (p.Glu490Lys) rs1560135430 0.00001
NM_024996.7(GFM1):c.1601C>T (p.Pro534Leu) rs780929821 0.00001
NM_024996.7(GFM1):c.1822C>T (p.Arg608Trp) rs762576741 0.00001
NM_024996.7(GFM1):c.2215A>C (p.Thr739Pro) rs201634749 0.00001
NM_024996.7(GFM1):c.367+3G>A rs1721798070 0.00001
NM_024996.7(GFM1):c.406A>G (p.Arg136Gly) rs759213430 0.00001
NM_024996.7(GFM1):c.455A>C (p.Gln152Pro) rs780319278 0.00001
NM_024996.7(GFM1):c.502C>T (p.Pro168Ser) rs1333867171 0.00001
NM_024996.7(GFM1):c.628A>G (p.Asn210Asp) rs1188899883 0.00001
NM_024996.7(GFM1):c.62T>C (p.Leu21Pro) rs777558130 0.00001
NM_024996.7(GFM1):c.662G>A (p.Arg221Gln) rs747846743 0.00001
NM_024996.7(GFM1):c.776A>G (p.Asn259Ser) rs375512235 0.00001
NM_024996.7(GFM1):c.824C>T (p.Ser275Leu) rs759365696 0.00001
NC_000003.11:g.(?_158399764)_(158409256_?)dup
NM_024996.7(GFM1):c.1037G>A (p.Ser346Asn) rs2473971809
NM_024996.7(GFM1):c.1043A>T (p.Asp348Val) rs1040378688
NM_024996.7(GFM1):c.1083+3A>G rs187690169
NM_024996.7(GFM1):c.1199G>A (p.Arg400His) rs139692119
NM_024996.7(GFM1):c.1199G>C (p.Arg400Pro) rs139692119
NM_024996.7(GFM1):c.1294A>G (p.Thr432Ala) rs1723155863
NM_024996.7(GFM1):c.1324G>C (p.Glu442Gln) rs757691557
NM_024996.7(GFM1):c.1384G>A (p.Asp462Asn) rs200244667
NM_024996.7(GFM1):c.1403A>G (p.Lys468Arg) rs1315582099
NM_024996.7(GFM1):c.1406G>A (p.Gly469Asp) rs750855220
NM_024996.7(GFM1):c.1415G>A (p.Arg472Lys) rs796260169
NM_024996.7(GFM1):c.1461G>C (p.Glu487Asp) rs2474007257
NM_024996.7(GFM1):c.1484G>C (p.Gly495Ala) rs2474007412
NM_024996.7(GFM1):c.155C>T (p.Ser52Leu)
NM_024996.7(GFM1):c.1765-3C>T rs2108102413
NM_024996.7(GFM1):c.1792C>T (p.Pro598Ser) rs2108102486
NM_024996.7(GFM1):c.1814C>G (p.Ser605Cys) rs764772830
NM_024996.7(GFM1):c.1914G>T (p.Leu638Phe) rs1295348437
NM_024996.7(GFM1):c.2041G>C (p.Val681Leu) rs745312855
NM_024996.7(GFM1):c.2236A>G (p.Lys746Glu) rs2473070136
NM_024996.7(GFM1):c.335A>G (p.Lys112Arg) rs2108001745
NM_024996.7(GFM1):c.494A>G (p.Tyr165Cys) rs764479679
NM_024996.7(GFM1):c.626G>A (p.Gly209Asp) rs2108009521
NM_024996.7(GFM1):c.67T>A (p.Trp23Arg) rs1055907573
NM_024996.7(GFM1):c.690-16A>G rs2108016593
NM_024996.7(GFM1):c.707G>A (p.Gly236Asp) rs1415352138
NM_024996.7(GFM1):c.715C>T (p.Pro239Ser) rs1722343637
NM_024996.7(GFM1):c.81+3A>G rs1721602573
NM_024996.7(GFM1):c.817A>G (p.Ile273Val) rs1278054865
NM_024996.7(GFM1):c.928T>G (p.Leu310Val) rs1188969241
NM_024996.7(GFM1):c.931G>A (p.Asp311Asn) rs1021136228
NM_024996.7(GFM1):c.964G>A (p.Glu322Lys)

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