ClinVar Miner

List of variants studied for Osteofibrous dysplasia; Papillary renal cell carcinoma type 1; Hepatocellular carcinoma; Autosomal recessive nonsyndromic hearing loss 97; Arthrogryposis, distal, IIa 11 by Fulgent Genetics, Fulgent Genetics

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000245.4(MET):c.1669A>G (p.Thr557Ala) rs374733251 0.00008
NM_000245.4(MET):c.3218C>T (p.Pro1073Leu) rs370529693 0.00007
NM_000245.4(MET):c.803C>T (p.Thr268Ile) rs757427533 0.00007
NM_000245.4(MET):c.2825C>T (p.Ser942Leu) rs375576430 0.00004
NM_000245.4(MET):c.1414C>T (p.Pro472Ser) rs376589619 0.00003
NM_000245.4(MET):c.1510G>T (p.Val504Phe) rs587780735 0.00003
NM_000245.4(MET):c.1853C>T (p.Thr618Met) rs753407699 0.00003
NM_000245.4(MET):c.1640G>A (p.Arg547Gln) rs761951444 0.00002
NM_000245.4(MET):c.1450C>T (p.His484Tyr) rs771272439 0.00001
NM_000245.4(MET):c.1477G>C (p.Glu493Gln) rs965319455 0.00001
NM_000245.4(MET):c.306C>G (p.Ser102Arg) rs749383450 0.00001
NM_000245.4(MET):c.3403A>T (p.Ser1135Cys) rs1394199299 0.00001
NM_000245.4(MET):c.362T>C (p.Val121Ala) rs879254339 0.00001
NM_000245.4(MET):c.3878C>G (p.Thr1293Ser) rs779121848 0.00001
NM_000245.4(MET):c.3973G>A (p.Glu1325Lys) rs587778444 0.00001
NM_000245.4(MET):c.4082G>A (p.Cys1361Tyr) rs766190061 0.00001
NM_000245.4(MET):c.4150G>A (p.Ala1384Thr) rs758486336 0.00001
NM_000245.4(MET):c.800A>G (p.Glu267Gly) rs751564290 0.00001
NM_000245.4(MET):c.1067del (p.Pro356fs)
NM_000245.4(MET):c.1285T>A (p.Leu429Ile) rs911380470
NM_000245.4(MET):c.2253A>T (p.Lys751Asn)
NM_000245.4(MET):c.2265-41G>C
NM_000245.4(MET):c.2363T>C (p.Val788Ala) rs786204142
NM_000245.4(MET):c.2766A>G (p.Lys922=)
NM_000245.4(MET):c.2935C>T (p.His979Tyr) rs1584955347
NM_000245.4(MET):c.3208G>T (p.Val1070Leu) rs760285693
NM_000245.4(MET):c.3637G>A (p.Asp1213Asn)
NM_000245.4(MET):c.4118A>G (p.Asp1373Gly) rs773898036
NM_000245.4(MET):c.569A>G (p.Asp190Gly) rs1028165414
NM_000245.4(MET):c.638C>T (p.Ser213Leu)
NM_000245.4(MET):c.709G>A (p.Val237Ile) rs757402499
NM_000245.4(MET):c.818C>T (p.Thr273Ile)
NM_000245.4(MET):c.850A>G (p.Ile284Val) rs776014448

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