ClinVar Miner

List of variants in gene LOC129998680, POR studied for adrenocortical insufficiency

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000941.2(POR):c.-47A>C rs3823884 0.44962
NM_000941.2(POR):c.-33G>T rs72553977 0.00172
NM_001395413.1(POR):c.-14G>C rs886062438 0.00167
NM_000941.2(POR):c.-80A>C rs886062437 0.00018
NM_001395413.1(POR):c.-14+9T>C rs1401114101 0.00002
NC_000007.14:g.75915138G>C rs535395573
NM_001395413.1(POR):c.-14+8C>G rs1040331805
NM_001395413.1(POR):c.-14G>A rs886062438
NM_001395413.1(POR):c.-14G>T rs886062438

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