ClinVar Miner

List of variants studied for multiple self-healing squamous epithelioma by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004612.4(TGFBR1):c.457G>A (p.Val153Ile) rs56014374 0.00115
NM_004612.4(TGFBR1):c.516A>G (p.Ser172=) rs140245968 0.00002
NM_004612.4(TGFBR1):c.363_364insTCA (p.Leu121_Gly122insSer) rs2118625345
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu) rs111854391

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