ClinVar Miner

List of variants studied for epithelial neoplasm by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

Included ClinVar conditions (286):
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ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.3929C>A (p.Thr1310Lys) rs80357257 0.00024
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658 0.00003
NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro) rs730881389 0.00001
NM_024675.4(PALB2):c.108+1G>A rs1060499814 0.00001
NM_000051.4(ATM):c.147_148insG (p.Lys50fs)
NM_000051.4(ATM):c.4370T>G (p.Leu1457Ter) rs373226793
NM_000051.4(ATM):c.496+334A>G
NM_000051.4(ATM):c.8400G>T (p.Gln2800His) rs879253901
NM_000059.4(BRCA2):c.67+1G>A rs81002796
NM_000059.4(BRCA2):c.9317G>A (p.Trp3106Ter) rs80359205
NM_000179.3(MSH6):c.3173-1_3173del rs587779256
NM_000179.3(MSH6):c.3477C>G (p.Tyr1159Ter) rs398123231
NM_000179.3(MSH6):c.3776_3777insAACA (p.Asn1259fs)
NM_000179.3(MSH6):c.883A>T (p.Lys295Ter)
NM_000249.4(MLH1):c.1570A>G (p.Met524Val) rs2125943681
NM_000314.8(PTEN):c.959dup (p.Leu320fs)
NM_000465.4(BARD1):c.1569-1G>C rs1574756672
NM_000546.6(TP53):c.1039G>A (p.Ala347Thr) rs1597349147
NM_001368894.2(PAX6):c.664C>T (p.Arg222Trp) rs757259413
NM_003000.3(SDHB):c.661del (p.Asp221fs)
NM_007294.4(BRCA1):c.1165del (p.Ser389fs) rs80357985
NM_007294.4(BRCA1):c.4932_4933dup (p.Arg1645fs) rs80357833
NM_007294.4(BRCA1):c.5417del (p.Pro1806fs) rs80357558
NM_024675.4(PALB2):c.2032del (p.Leu678fs) rs730881866
NM_024675.4(PALB2):c.293dup (p.Thr99fs) rs1967057228
NM_024675.4(PALB2):c.3032A>T (p.Glu1011Val) rs1597079845
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer) rs760551339

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