ClinVar Miner

List of variants in gene GFM1 reported by Revvity Omics, Revvity

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys) rs201408725 0.00006
NM_024996.7(GFM1):c.997_998+2del rs763084523 0.00003
NM_024996.7(GFM1):c.100C>T (p.Arg34Ter) rs766234016 0.00001
NM_024996.7(GFM1):c.830C>T (p.Ser277Phe) rs767528432 0.00001
NM_024996.7(GFM1):c.89_99del (p.Trp30fs) rs763423294 0.00001
NM_024996.7(GFM1):c.1209C>A (p.Ala403=) rs149949638
NM_024996.7(GFM1):c.1396T>C (p.Phe466Leu) rs761392626
NM_024996.7(GFM1):c.1510del (p.Tyr504fs) rs1560135485
NM_024996.7(GFM1):c.56C>T (p.Ala19Val) rs567086019

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