ClinVar Miner

List of variants in gene combination HR, HRURF reported as uncertain significance for hereditary skin disorder

Included ClinVar conditions (790):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_005144.5(HR):c.-599C>T rs759359391 0.00066
NM_005144.5(HR):c.-411C>T rs541887689 0.00040
NM_005144.5(HR):c.-136C>T rs766260543 0.00017
NM_005144.5(HR):c.-439A>G rs886062811 0.00017
NM_005144.5(HR):c.-106G>A rs954781373 0.00006
NM_005144.5(HR):c.-572G>C rs1017901290 0.00004
NM_005144.5(HR):c.-380C>T rs574717314 0.00001
NM_005144.5(HR):c.-443G>C rs886062812 0.00001
NM_005144.5(HR):c.-621T>C rs886062813 0.00001
NM_005144.5(HR):c.-326G>A rs886062810
NM_005144.5(HR):c.-469C>T rs1037025566
NM_005144.5(HR):c.-579CCGCCGCGCTCT[3] rs568964531

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