ClinVar Miner

List of variants in gene ROM1 reported by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000327.4(ROM1):c.353G>C (p.Gly118Ala) rs1799959 0.93846
NM_000327.4(ROM1):c.868del (p.Gln290fs) rs548233813 0.00807
NM_000327.4(ROM1):c.812T>C (p.Met271Thr) rs137950927 0.00178
NM_000327.4(ROM1):c.81G>T (p.Leu27=) rs148196509 0.00152
NM_000327.4(ROM1):c.47G>A (p.Arg16His) rs143166696 0.00125
NM_000327.4(ROM1):c.940G>A (p.Gly314Arg) rs141919268 0.00056
NM_000327.4(ROM1):c.323C>T (p.Thr108Met) rs146358003 0.00053
NM_000327.4(ROM1):c.342C>T (p.Leu114=) rs537377404 0.00049
NM_000327.4(ROM1):c.223G>A (p.Gly75Ser) rs146227174 0.00005
NM_000327.4(ROM1):c.269C>T (p.Ala90Val) rs398123334 0.00004
NM_000327.4(ROM1):c.64T>G (p.Trp22Gly) rs750676165 0.00001
NM_000327.4(ROM1):c.167C>T (p.Ser56Phe) rs199847029
NM_000327.4(ROM1):c.213G>A (p.Ala71=) rs886042979

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