ClinVar Miner

List of variants studied for autosomal recessive disease by KCCC/NGS Laboratory, Kuwait Cancer Control Center

Included ClinVar conditions (1204):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_001048174.2(MUTYH):c.420+35A>G rs3219487 0.93920
NM_001048174.2(MUTYH):c.1393-40C>G rs3219493 0.93580
NM_152617.4(RNF168):c.1202C>A (p.Pro401Gln) rs3796129 0.49737
NM_000057.4(BLM):c.2555+7T>C rs3815003 0.37072
NM_001048174.2(MUTYH):c.930G>C (p.Gln310His) rs3219489 0.26720
NM_000057.4(BLM):c.3102G>A (p.Thr1034=) rs2227933 0.17570
NM_000057.4(BLM):c.3358+32T>G rs17273842 0.16733
NM_000057.4(BLM):c.2308-50G>A rs17273206 0.16462
NM_000057.4(BLM):c.3945C>T (p.Leu1315=) rs1063147 0.15526
NM_000057.4(BLM):c.3531C>A (p.Ala1177=) rs2227934 0.15517
NM_016038.4(SBDS):c.201A>G (p.Lys67=) rs1061695 0.08712
NM_000057.4(BLM):c.3961G>A (p.Val1321Ile) rs7167216 0.08093
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935 0.06742
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met) rs3219484 0.04794
NM_016038.4(SBDS):c.129-71G>A rs62466589 0.04156
NM_016038.4(SBDS):c.651C>T (p.Phe217=) rs73151675 0.03660
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr) rs79344818 0.02573
NM_001048174.2(MUTYH):c.115+30A>G rs3219485 0.02310
NM_016038.4(SBDS):c.258+19A>G rs186000847 0.01143
NM_000057.4(BLM):c.419A>G (p.Glu140Gly) rs35886055 0.00958
NM_000057.4(BLM):c.2075-12G>T rs28385027 0.00541
NM_000057.4(BLM):c.615G>A (p.Lys205=) rs28903082 0.00496
NM_000057.4(BLM):c.410A>G (p.Lys137Arg) rs28384988 0.00434
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp) rs2229035 0.00421
NM_152617.4(RNF168):c.1237G>A (p.Glu413Lys) rs6790173 0.00395
NM_000057.4(BLM):c.1122T>C (p.His374=) rs28385009 0.00382
NM_000057.4(BLM):c.1722A>G (p.Leu574=) rs28385011 0.00379
NM_000057.4(BLM):c.893C>T (p.Thr298Met) rs28384991 0.00346
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile) rs28385141 0.00245
NM_000057.4(BLM):c.2075-14T>C rs28385026 0.00240
NM_152617.4(RNF168):c.508G>A (p.Glu170Lys) rs114025031 0.00235
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918 0.00172
NM_000057.4(BLM):c.3849G>A (p.Gln1283=) rs140524886 0.00115
NM_001048174.2(MUTYH):c.1365C>T (p.Thr455=) rs150269172 0.00043
NM_000057.4(BLM):c.2115T>C (p.Val705=) rs142787700 0.00029
NM_001048174.2(MUTYH):c.-6-7G>A rs780029247 0.00010
NM_001048174.2(MUTYH):c.901G>A (p.Val301Met) rs147718169 0.00008
NM_000057.4(BLM):c.2898C>G (p.Leu966=) rs201220226 0.00006
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp) rs34126013 0.00002
NM_001048174.2(MUTYH):c.1380C>T (p.Thr460=) rs373973053 0.00001
NM_000057.4(BLM):c.2603_2605delinsTAG (p.Pro868_Lys869delinsLeuGlu)
NM_000057.4(BLM):c.2603_2614delinsTAGAAAAGACT (p.Pro868fs)
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs) rs587780078
NM_001048174.2(MUTYH):c.1209C>G (p.Leu403=) rs577542506
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del) rs587778541
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter) rs121908380
NM_001048174.2(MUTYH):c.252A>G (p.Pro84=) rs1057520980
NM_001048174.2(MUTYH):c.525T>C (p.Arg175=) rs1322980057
NM_001048174.2(MUTYH):c.774G>T (p.Gly258=) rs771290019

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