ClinVar Miner

List of variants in gene MYRF reported as uncertain significance by GeneDx

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001127392.3(MYRF):c.2227C>T (p.Pro743Ser) rs764008852 0.00010
NM_001127392.3(MYRF):c.2801T>G (p.Ile934Ser) rs1013634920 0.00001
NM_001127392.3(MYRF):c.1035C>A (p.Asp345Glu)
NM_001127392.3(MYRF):c.1067A>G (p.His356Arg) rs2540911104
NM_001127392.3(MYRF):c.1351C>G (p.Gln451Glu) rs2540946224
NM_001127392.3(MYRF):c.1509G>A (p.Met503Ile) rs2540953552
NM_001127392.3(MYRF):c.1576C>T (p.Arg526Cys) rs2540954215
NM_001127392.3(MYRF):c.1612G>A (p.Glu538Lys)
NM_001127392.3(MYRF):c.1742G>T (p.Gly581Val)
NM_001127392.3(MYRF):c.1873G>C (p.Ala625Pro) rs755451324
NM_001127392.3(MYRF):c.1904-3dup
NM_001127392.3(MYRF):c.1937C>T (p.Pro646Leu)
NM_001127392.3(MYRF):c.1984A>G (p.Thr662Ala)
NM_001127392.3(MYRF):c.2014-3_2014-2insCCATGTC rs2135856196
NM_001127392.3(MYRF):c.2026A>T (p.Met676Leu) rs2540977400
NM_001127392.3(MYRF):c.2336+1G>A rs1057518279
NM_001127392.3(MYRF):c.3097T>G (p.Cys1033Gly)
NM_001127392.3(MYRF):c.3387C>G (p.Asn1129Lys)
NM_001127392.3(MYRF):c.3431del (p.Phe1144fs) rs2541042312
NM_001127392.3(MYRF):c.3452A>T (p.Asp1151Val)
NM_001127392.3(MYRF):c.497T>C (p.Leu166Pro)
NM_001127392.3(MYRF):c.565C>T (p.Pro189Ser)
NM_001127392.3(MYRF):c.710T>C (p.Leu237Pro) rs2540896611

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