ClinVar Miner

List of variants studied for Chordoma by Integrative Tumor Epidemiology Branch, National Institutes of Health

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561 0.00023
NM_024675.4(PALB2):c.1042C>A (p.Gln348Lys) rs375699023 0.00008
NM_000059.4(BRCA2):c.7010C>T (p.Thr2337Ile) rs80358927 0.00004
NM_000059.4(BRCA2):c.7565C>T (p.Ser2522Phe) rs80358985 0.00003
NM_000059.4(BRCA2):c.4779A>C (p.Glu1593Asp) rs80358703 0.00002
NM_024675.4(PALB2):c.2755G>A (p.Val919Ile) rs775193384 0.00002
NM_000059.4(BRCA2):c.3517A>T (p.Ile1173Phe) rs431825308 0.00001
NM_000059.4(BRCA2):c.8117A>G (p.Asn2706Ser) rs80359055 0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_024675.4(PALB2):c.3103A>G (p.Ile1035Val) rs863224783 0.00001
NM_024675.4(PALB2):c.3494C>T (p.Ser1165Leu) rs773829275 0.00001
NM_000059.4(BRCA2):c.2141A>C (p.Glu714Ala) rs2137483648
NM_000059.4(BRCA2):c.2143G>T (p.Gly715Ter) rs1007336407
NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer) rs80359391
NM_000059.4(BRCA2):c.6902A>G (p.Glu2301Gly) rs2137537213
NM_024675.4(PALB2):c.1600T>G (p.Ser534Ala) rs1064793824
NM_024675.4(PALB2):c.398G>C (p.Ser133Thr) rs864622411

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