ClinVar Miner

List of variants reported as benign for neonatal inflammatory skin and bowel disease by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_003183.6(ADAM17):c.1824T>C (p.Ser608=) rs1048610 0.59724
NM_003183.6(ADAM17):c.604A>G (p.Arg202Gly) rs2230818 0.06968
NM_003183.6(ADAM17):c.1695T>C (p.Thr565=) rs56237316 0.01223
NM_003183.6(ADAM17):c.2240C>T (p.Ser747Leu) rs55796712 0.01113
NM_003183.6(ADAM17):c.2017G>A (p.Val673Ile) rs61754177 0.00673
NM_003183.6(ADAM17):c.844-5T>C rs201461814 0.00624
NM_003183.6(ADAM17):c.2243C>T (p.Ala748Val) rs79932015 0.00567
NM_003183.6(ADAM17):c.2134-14C>T rs114255985 0.00387
NM_003183.6(ADAM17):c.484A>G (p.Lys162Glu) rs34431503 0.00362
NM_003183.6(ADAM17):c.2199C>G (p.Pro733=) rs148093044 0.00070
NM_003183.6(ADAM17):c.2073C>T (p.Val691=) rs34355677 0.00066
NM_003183.6(ADAM17):c.1544+15C>T rs549487601 0.00046
NM_003183.6(ADAM17):c.2134-11T>C rs79715435 0.00040
NM_003183.6(ADAM17):c.81C>T (p.Gly27=) rs138046330 0.00034
NM_003183.6(ADAM17):c.451-20G>A rs190898474 0.00026
NM_003183.6(ADAM17):c.1317T>C (p.Ala439=) rs200399376 0.00009
NM_003183.6(ADAM17):c.1833T>C (p.Cys611=) rs200055210 0.00004
NM_003183.6(ADAM17):c.2346C>T (p.Phe782=) rs201360504 0.00002
NM_003183.6(ADAM17):c.1915-9del
NM_003183.6(ADAM17):c.1915-9dup
NM_003183.6(ADAM17):c.2083-9del rs372459687
NM_003183.6(ADAM17):c.362-9dup rs769247529
NM_003183.6(ADAM17):c.958-13del rs34863481
NM_003183.6(ADAM17):c.958-34dup rs34863481
NM_003183.6(ADAM17):c.97+15del

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