ClinVar Miner

List of variants studied for benign neoplasm by Mendelics

Included ClinVar conditions (127):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_002609.4(PDGFRB):c.3287C>T (p.Ala1096Val) rs114435947 0.00259
NM_002382.5(MAX):c.172-6230G>A rs148339628 0.00097
NM_015922.3(NSDHL):c.*129C>T rs145978994 0.00030
NM_017563.5(IL17RD):c.572C>T (p.Pro191Leu) rs200088377 0.00012
NM_017849.4(TMEM127):c.410-6T>G rs765971817 0.00002
NM_017849.4(TMEM127):c.410-2A>C rs121908826

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