ClinVar Miner

List of variants reported as uncertain significance for Megacolon

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NC_000001.10:g.3776519_4049451dup
NC_000001.11:g.152313740_152351227dup
NC_000001.11:g.185140652_185163497dup
NC_000001.11:g.25389184_25418273dup
NC_000001.11:g.25390875_25418273dup
NC_000002.11:g.102658576_102847088dup
NC_000002.11:g.10664398_10914786dup
NC_000002.11:g.177128475_177259979dup
NC_000002.11:g.206875802_207000559del
NC_000002.12:g.215349854_215435010del
NC_000003.11:g.108481092_108926543del
NC_000003.12:g.138009002_138059513del
NC_000003.12:g.146056770_146083362dup
NC_000003.12:g.57429239_57506648del
NC_000004.12:g.158620035_158710228del
NC_000004.12:g.158674880_158700204del
NC_000006.12:g.22008001_22092880del
NC_000007.13:g.151797921_152258693dup
NC_000007.13:g.3627221_3759274del
NC_000007.13:g.4736454_4860123dup
NC_000007.13:g.4929022_5218030dup
NC_000007.13:g.5239584_5401976dup
NC_000007.13:g.95845896_96004178del
NC_000008.10:g.95186036_95301703dup
NC_000012.11:g.128208742_128917555dup
NC_000012.11:g.80598919_80836812del
NC_000012.11:g.94767704_94880489del
NC_000012.12:g.9092896_9155947dup
NC_000015.10:g.80234873_80310800dup
NC_000015.9:g.62409198_62521004dup
NC_000018.10:g.48229615_48261302dup
NC_000018.10:g.6335543_6430945dup
NC_000018.10:g.6454094_6548625dup
NC_000018.9:g.65699090_66534856dup
NC_000022.10:g.21802791_22555544dup
NC_000023.11:g.155049153_155071207del
NC_000023.11:g.3266860_3322912dup
NC_000023.11:g.95154038_95191395del
NM_000090.4(COL3A1):c.80-489_3525+120del
NM_000492.4(CFTR):c.2491-1136_2619+2230del
NM_000492.4(CFTR):c.3874-5122_3963+733del
NM_001258282.3(LINGO2):c.-228+12976_-227-20514del
NM_001927.4(DES):c.37_578+508del
NM_003296.4(CRISP2):c.515+968_604+1414del
NM_006031.6(PCNT):c.4585-26_7180-1125del

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