ClinVar Miner

List of variants studied for ectodermal dysplasia syndrome by GenomeConnect, ClinGen

Included ClinVar conditions (215):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_030916.3(NECTIN4):c.1327C>T (p.Arg443Cys) rs1537044 0.00102
NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu) rs150669855 0.00064
NM_001099274.3(TINF2):c.936C>A (p.Tyr312Ter) rs201677741 0.00006
NM_001854.4(COL11A1):c.2644C>T (p.Arg882Cys) rs749003514 0.00004
NM_001854.4(COL11A1):c.281C>T (p.Thr94Ile) rs1283924469 0.00004
NM_001854.4(COL11A1):c.2513G>A (p.Gly838Glu) rs372419698 0.00001
GRCh37/hg19 16p13.12-13.11(chr16:14643928-14725823)x1
NM_001854.4(COL11A1):c.5029A>G (p.Arg1677Gly)

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