ClinVar Miner

List of intergenic variants studied for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NC_000017.11:g.8002596T>C rs774980016 0.00004
2q13 deletion
NC_000018.10:g.60033942_60033993del rs2144716942
Single allele
c.10_11 ins10bp
c.1180-1181delCT
c.1263+81_1596+?del
c.1323C>T
c.1330-1333delTTCC
c.599C>T
c.667_684del(664_681del)

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