ClinVar Miner

List of variants in gene SNAP29 reported as pathogenic for CEDNIK syndrome

Included ClinVar conditions (1):
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Gene type:
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_004782.4(SNAP29):c.2T>C (p.Met1Thr) rs886041240 0.00001
NM_004782.4(SNAP29):c.223del (p.Val75fs) rs869312906
NM_004782.4(SNAP29):c.354dup (p.Leu119fs) rs751575036
NM_004782.4(SNAP29):c.487dup (p.Ser163fs) rs387907363
NM_004782.4(SNAP29):c.622G>T (p.Glu208Ter) rs1064795236

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