ClinVar Miner

List of variants in gene HR, HRURF studied for alopecia universalis congenita

Included ClinVar conditions (1):
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Gene type:
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001394132.1(HRURF):c.-294T>G rs6557841 0.65210
NM_001394132.1(HRURF):c.-12T>C rs147674174 0.01614
NM_005144.5(HR):c.-599C>T rs759359391 0.00066
NM_001394132.1(HRURF):c.-90C>T rs541887689 0.00040
NM_001394132.1(HRURF):c.-118A>G rs886062811 0.00023
NM_001394132.1(HRURF):c.*81C>T rs766260543 0.00017
NM_005144.5(HR):c.-106G>A rs954781373 0.00006
NM_005144.5(HR):c.-572G>C rs1017901290 0.00004
NM_001394132.1(HRURF):c.-122G>C rs886062812 0.00003
NM_001394132.1(HRURF):c.-300T>C rs886062813 0.00001
NM_005144.5(HR):c.-380C>T rs574717314 0.00001
NM_001394132.1(HRURF):c.-5G>A rs886062810
NM_005144.5(HR):c.-469C>T rs1037025566

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