ClinVar Miner

List of variants reported as likely benign for neonatal inflammatory skin and bowel disease by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_003183.6(ADAM17):c.2240C>T (p.Ser747Leu) rs55796712 0.01113
NM_005228.5(EGFR):c.3485G>A (p.Ser1162Asn) rs41321844 0.00362
NM_003183.6(ADAM17):c.2134-11T>C rs79715435 0.00040
NM_005228.5(EGFR):c.968T>C (p.Val323Ala) rs367680488 0.00018
NM_003183.6(ADAM17):c.2280C>T (p.Asp760=) rs371018540 0.00012
NM_005228.5(EGFR):c.2709_2710inv (p.Val904Ile)

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