ClinVar Miner

List of variants reported as risk factor for carcinoma

Included ClinVar conditions (243):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_002443.3(MSMB):c.-89T= rs10993994 0.45944
NM_017449.5(EPHB2):c.*187A>T rs76826147 0.01125
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_020762.4(SRGAP1):c.1849C>T (p.Arg617Cys) rs114817817 0.00101
NM_001166108.2(PALLD):c.1965-12616C>T rs121908291 0.00026
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter) rs587776527 0.00002
NM_000059.4(BRCA2):c.2632G>C (p.Asp878His) rs1593897379
NM_000125.4(ESR1):c.908A>G (p.Lys303Arg) rs796065354
NM_002447.4(MST1R):c.917G>A (p.Arg306His) rs200046052
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) rs180177133
PALB2:c.2515-1G>T rs587776417

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