ClinVar Miner

List of variants studied for autosomal recessive osteopetrosis 4

Included ClinVar conditions (3):
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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_001287.6(CLCN7):c.485-39A>C rs2072950 0.73095
NM_001287.6(CLCN7):c.285+52C>A rs2744994 0.60500
NM_001287.6(CLCN7):c.126T>C (p.Pro42=) rs3751884 0.59955
NM_001287.6(CLCN7):c.1884-35T>C rs12597739 0.53608
NM_001287.6(CLCN7):c.1170A>T (p.Ala390=) rs2235579 0.51407
NM_001287.6(CLCN7):c.981+133G>A rs7190701 0.48855
NM_001287.6(CLCN7):c.2251-50G>A rs12599176 0.41216
NM_001287.6(CLCN7):c.1618-49G>A rs742408 0.36776
NM_001287.6(CLCN7):c.676-85G>A rs8061743 0.20005
NM_001287.6(CLCN7):c.1252G>A (p.Val418Met) rs12926089 0.11417
NM_001287.6(CLCN7):c.141+19C>G rs547168471 0.00082
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.857G>A (p.Arg286Gln) rs760956030 0.00004
NM_001287.6(CLCN7):c.871G>A (p.Ala291Thr) rs923808258 0.00004
NM_001287.6(CLCN7):c.1561G>A (p.Gly521Arg) rs368190250 0.00001
NM_001287.6(CLCN7):c.1681C>T (p.Arg561Trp) rs2038701489 0.00001
NM_001287.6(CLCN7):c.641A>G (p.Asn214Ser) rs367567630 0.00001
NM_001287.6(CLCN7):c.739-18G>A rs371893553 0.00001
NM_001287.6(CLCN7):c.1077C>A (p.Asn359Lys) rs2142378398
NM_001287.6(CLCN7):c.1125C>G (p.Ile375Met) rs1410701535
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.1304C>T (p.Ser435Leu)
NM_001287.6(CLCN7):c.1394C>A (p.Ala465Asp)
NM_001287.6(CLCN7):c.1448-2A>G
NM_001287.6(CLCN7):c.1448-43dup rs61073146
NM_001287.6(CLCN7):c.1617+119G>A rs922106856
NM_001287.6(CLCN7):c.1637A>G (p.Lys546Arg)
NM_001287.6(CLCN7):c.1638del (p.Lys546fs) rs2142368980
NM_001287.6(CLCN7):c.1663C>T (p.Gln555Ter) rs121434432
NM_001287.6(CLCN7):c.1669+1G>C
NM_001287.6(CLCN7):c.1682G>A (p.Arg561Gln) rs757788894
NM_001287.6(CLCN7):c.1714del (p.Glu572fs)
NM_001287.6(CLCN7):c.1797+4C>T rs200682842
NM_001287.6(CLCN7):c.1806C>G (p.Tyr602Ter)
NM_001287.6(CLCN7):c.2250+1G>T rs1567263375
NM_001287.6(CLCN7):c.2285G>A (p.Arg762Gln) rs121434433
NM_001287.6(CLCN7):c.2297T>C (p.Leu766Pro) rs121434434
NM_001287.6(CLCN7):c.2299C>T (p.Arg767Trp) rs121434435
NM_001287.6(CLCN7):c.2332G>T (p.Val778Phe) rs1172932679
NM_001287.6(CLCN7):c.2385_2386del (p.Gly796fs) rs2142364275
NM_001287.6(CLCN7):c.296A>G (p.Tyr99Cys) rs387907576
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.676-86C>G rs8060503
NM_001287.6(CLCN7):c.781A>T (p.Ile261Phe) rs121434436
NM_001287.6(CLCN7):c.839G>A (p.Arg280His) rs1163577336
NM_001287.6(CLCN7):c.892dup (p.Ser298fs)
NM_001287.6(CLCN7):c.913G>A (p.Val305Met) rs558354107

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