ClinVar Miner

List of variants in gene combination NELFE, SKIC2 reported as uncertain significance for hereditary disorder of connective tissue

Included ClinVar conditions (296):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_006929.4(SKIC2):c.-280G>T rs182142262 0.00631
NM_006929.4(SKIC2):c.-249C>G rs546698443 0.00115
NM_006929.4(SKIC2):c.-273G>A rs886061298 0.00011
NM_006929.4(SKIC2):c.-224G>A rs886061300 0.00003
NM_006929.4(SKIC2):c.-269T>C rs886061299

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