ClinVar Miner

List of variants in gene CLCN7 reported as uncertain significance for autosomal recessive osteopetrosis 4

Included ClinVar conditions (3):
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_001287.6(CLCN7):c.2073+4C>T rs768190489 0.00010
NM_001287.6(CLCN7):c.812G>A (p.Arg271Gln) rs541169535 0.00007
NM_001287.6(CLCN7):c.871G>A (p.Ala291Thr) rs923808258 0.00004
NM_001287.6(CLCN7):c.641A>G (p.Asn214Ser) rs367567630 0.00001
NM_001287.6(CLCN7):c.1165G>A (p.Gly389Arg) rs1555465003
NM_001287.6(CLCN7):c.1208G>A (p.Arg403Gln) rs765444328
NM_001287.6(CLCN7):c.1637A>G (p.Lys546Arg)
NM_001287.6(CLCN7):c.1797+4C>T rs200682842
NM_001287.6(CLCN7):c.436_438del (p.Ile146del)
NM_001287.6(CLCN7):c.608G>A (p.Gly203Asp)
NM_001287.6(CLCN7):c.629A>G (p.Lys210Arg)
NM_001287.6(CLCN7):c.913G>A (p.Val305Met) rs558354107

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