ClinVar Miner

List of variants in gene combination LOC129994976, SLC26A2 reported as uncertain significance for atelosteogenesis

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000112.3(SLC26A2):c.-256G>A rs886060219 0.00011
NM_000112.3(SLC26A2):c.-264C>T rs963803079 0.00007
NM_000112.4(SLC26A2):c.-235T>C rs760297706 0.00003
NM_000112.4(SLC26A2):c.-206T>A rs560467935
NM_000112.4(SLC26A2):c.-223A>G rs886060220
NM_000112.4(SLC26A2):c.-229T>C rs766027398
NM_000112.4(SLC26A2):c.-238G>A rs11953129

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