ClinVar Miner

List of variants in gene HOGA1 reported as uncertain significance for carbohydrate metabolism disease

Included ClinVar conditions (305):
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Gene type:
ClinVar version:
Total variants: 125
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HGVS dbSNP gnomAD frequency
NM_138413.4(HOGA1):c.912C>A (p.Ala304=) rs12261752 0.29673
NM_138413.4(HOGA1):c.212-21A>G rs11817730 0.19877
NM_138413.4(HOGA1):c.700+67G>A rs2297643 0.16278
NM_138413.4(HOGA1):c.469-25C>T rs7078003 0.14530
NM_138413.4(HOGA1):c.469-31C>T rs75929214 0.09102
NM_138413.4(HOGA1):c.*360C>T rs114372258 0.03441
NM_138413.4(HOGA1):c.396G>A (p.Ala132=) rs41290456 0.02716
NM_138413.4(HOGA1):c.834+42G>T rs115279832 0.01504
NM_138413.4(HOGA1):c.*101C>T rs41290458 0.00319
NM_138413.4(HOGA1):c.*68C>T rs551593998 0.00112
NM_138413.4(HOGA1):c.*425T>C rs189957405 0.00092
NM_138413.4(HOGA1):c.708G>T (p.Val236=) rs61731946 0.00068
NM_138413.4(HOGA1):c.*950G>A rs190392004 0.00058
NM_138413.4(HOGA1):c.*292C>T rs771988623 0.00056
NM_138413.4(HOGA1):c.*55T>C rs763365957 0.00052
NM_138413.4(HOGA1):c.931C>T (p.Pro311Ser) rs116455504 0.00047
NM_138413.4(HOGA1):c.237C>T (p.Gly79=) rs148094180 0.00044
NM_138413.4(HOGA1):c.*289C>T rs540860054 0.00035
NM_138413.4(HOGA1):c.701-18G>C rs201596675 0.00034
NM_138413.4(HOGA1):c.185A>T (p.His62Leu) rs150812556 0.00030
NM_138413.4(HOGA1):c.299T>C (p.Met100Thr) rs201630144 0.00021
NM_138413.4(HOGA1):c.554C>T (p.Thr185Met) rs115282699 0.00019
NM_138413.4(HOGA1):c.106G>A (p.Ala36Thr) rs573292460 0.00017
NM_138413.4(HOGA1):c.107C>T (p.Ala36Val) rs201803986 0.00016
NM_138413.4(HOGA1):c.771C>T (p.Cys257=) rs550989147 0.00015
NM_138413.4(HOGA1):c.*593G>A rs564823369 0.00014
NM_138413.4(HOGA1):c.*290G>A rs144890621 0.00013
NM_138413.4(HOGA1):c.700+9C>T rs375091787 0.00011
NM_138413.4(HOGA1):c.910G>A (p.Ala304Thr) rs116527624 0.00010
NM_138413.4(HOGA1):c.*1047T>C rs537101942 0.00009
NM_138413.4(HOGA1):c.*550A>G rs991121870 0.00008
NM_138413.4(HOGA1):c.*186C>T rs576078709 0.00007
NM_138413.4(HOGA1):c.424C>T (p.Arg142Cys) rs201450556 0.00006
NM_138413.4(HOGA1):c.828C>T (p.Asn276=) rs201683794 0.00006
NM_138413.4(HOGA1):c.*352T>C rs545072905 0.00005
NM_138413.4(HOGA1):c.701-7C>T rs372897096 0.00005
NM_138413.4(HOGA1):c.764G>A (p.Arg255Gln) rs201145417 0.00005
NM_138413.4(HOGA1):c.811C>T (p.Arg271Cys) rs367741588 0.00005
NM_138413.4(HOGA1):c.216C>T (p.Phe72=) rs780606715 0.00004
NM_138413.4(HOGA1):c.269T>A (p.Leu90His) rs373226228 0.00004
NM_138413.4(HOGA1):c.443C>T (p.Ala148Val) rs149896778 0.00004
NM_138413.4(HOGA1):c.448C>T (p.Leu150Phe) rs745919223 0.00004
NM_138413.4(HOGA1):c.538G>A (p.Val180Met) rs114177505 0.00004
NM_138413.4(HOGA1):c.720C>T (p.Cys240=) rs183301169 0.00004
NM_138413.4(HOGA1):c.745C>G (p.Gln249Glu) rs368276974 0.00004
NM_138413.4(HOGA1):c.407T>C (p.Val136Ala) rs776292240 0.00003
NM_138413.4(HOGA1):c.909C>T (p.Arg303=) rs764469579 0.00003
NM_138413.4(HOGA1):c.943_954dup (p.Glu315_Arg318dup) rs777828182 0.00003
NM_138413.4(HOGA1):c.953G>A (p.Arg318His) rs201347931 0.00003
NM_138413.4(HOGA1):c.*109C>T rs534886813 0.00002
NM_138413.4(HOGA1):c.208C>T (p.Arg70Ter) rs758304537 0.00002
NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys) rs267606762 0.00002
NM_138413.4(HOGA1):c.385G>A (p.Gly129Arg) rs778171847 0.00002
NM_138413.4(HOGA1):c.39G>A (p.Gly13=) rs200127255 0.00002
NM_138413.4(HOGA1):c.-224G>A rs1176162564 0.00001
NM_138413.4(HOGA1):c.133C>G (p.Pro45Ala) rs1380918472 0.00001
NM_138413.4(HOGA1):c.212-6T>C rs372066473 0.00001
NM_138413.4(HOGA1):c.221T>G (p.Val74Gly) rs796052084 0.00001
NM_138413.4(HOGA1):c.238G>A (p.Glu80Lys) rs772441887 0.00001
NM_138413.4(HOGA1):c.260G>C (p.Ser87Thr) rs1167209340 0.00001
NM_138413.4(HOGA1):c.294G>A (p.Gln98=) rs777208958 0.00001
NM_138413.4(HOGA1):c.317T>A (p.Leu106Gln) rs892512382 0.00001
NM_138413.4(HOGA1):c.33G>T (p.Arg11Ser) rs778696295 0.00001
NM_138413.4(HOGA1):c.398C>T (p.Ala133Val) rs374367160 0.00001
NM_138413.4(HOGA1):c.420C>T (p.Tyr140=) rs749899995 0.00001
NM_138413.4(HOGA1):c.529G>T (p.Asp177Tyr) rs777601935 0.00001
NM_138413.4(HOGA1):c.533T>A (p.Leu178Gln) rs796052090 0.00001
NM_138413.4(HOGA1):c.634A>G (p.Thr212Ala) rs779492256 0.00001
NM_138413.4(HOGA1):c.818T>C (p.Ile273Thr) rs758795356 0.00001
NM_138413.4(HOGA1):c.832G>A (p.Ala278Thr) rs748335042 0.00001
NM_138413.4(HOGA1):c.933C>T (p.Pro311=) rs561984280 0.00001
NM_138413.4(HOGA1):c.*1059A>C rs886047524
NM_138413.4(HOGA1):c.*186C>A rs576078709
NM_138413.4(HOGA1):c.*204T>A rs886047519
NM_138413.4(HOGA1):c.*288A>C rs886047520
NM_138413.4(HOGA1):c.*291C>T rs1451536369
NM_138413.4(HOGA1):c.*350dup rs1554875325
NM_138413.4(HOGA1):c.*353_*354dup rs5787248
NM_138413.4(HOGA1):c.*354dup rs5787248
NM_138413.4(HOGA1):c.*359dup rs561998392
NM_138413.4(HOGA1):c.*381AG[1] rs886047523
NM_138413.4(HOGA1):c.*391T>C rs2041201199
NM_138413.4(HOGA1):c.*427G>A rs181759217
NM_138413.4(HOGA1):c.*485C>T rs553100036
NM_138413.4(HOGA1):c.*592C>G rs573565860
NM_138413.4(HOGA1):c.*592C>T rs573565860
NM_138413.4(HOGA1):c.*665C>T rs2041204731
NM_138413.4(HOGA1):c.*887C>G rs2041206041
NM_138413.4(HOGA1):c.*937C>T rs532737566
NM_138413.4(HOGA1):c.103A>G (p.Ile35Val)
NM_138413.4(HOGA1):c.110G>T (p.Gly37Val) rs772722925
NM_138413.4(HOGA1):c.134C>G (p.Pro45Arg) rs764396564
NM_138413.4(HOGA1):c.134C>T (p.Pro45Leu) rs764396564
NM_138413.4(HOGA1):c.139A>C (p.Thr47Pro) rs1221444661
NM_138413.4(HOGA1):c.153G>T (p.Glu51Asp) rs1347221993
NM_138413.4(HOGA1):c.18C>T (p.Val6=) rs1589899135
NM_138413.4(HOGA1):c.200T>G (p.Phe67Cys)
NM_138413.4(HOGA1):c.20G>C (p.Trp7Ser)
NM_138413.4(HOGA1):c.22TCT[1] (p.Ser9del) rs1554872338
NM_138413.4(HOGA1):c.337G>A (p.Glu113Lys) rs150702945
NM_138413.4(HOGA1):c.341-82del rs796052083
NM_138413.4(HOGA1):c.341-8T>C rs2041094866
NM_138413.4(HOGA1):c.344C>G (p.Thr115Ser) rs2041094955
NM_138413.4(HOGA1):c.365C>T (p.Thr122Ile)
NM_138413.4(HOGA1):c.41T>A (p.Leu14Gln)
NM_138413.4(HOGA1):c.469-13C>T rs750664684
NM_138413.4(HOGA1):c.477T>C (p.Asp159=) rs2041100859
NM_138413.4(HOGA1):c.485C>T (p.Pro162Leu)
NM_138413.4(HOGA1):c.535C>A (p.Pro179Thr) rs374327791
NM_138413.4(HOGA1):c.535C>T (p.Pro179Ser)
NM_138413.4(HOGA1):c.541G>C (p.Asp181His)
NM_138413.4(HOGA1):c.584T>C (p.Met195Thr)
NM_138413.4(HOGA1):c.599G>A (p.Gly200Asp)
NM_138413.4(HOGA1):c.604-4G>T rs2041104477
NM_138413.4(HOGA1):c.64G>A (p.Val22Met) rs1425518232
NM_138413.4(HOGA1):c.661G>A (p.Ala221Thr) rs2041104991
NM_138413.4(HOGA1):c.661G>C (p.Ala221Pro)
NM_138413.4(HOGA1):c.713del (p.Gly238fs) rs760930050
NM_138413.4(HOGA1):c.752G>C (p.Cys251Ser) rs886047518
NM_138413.4(HOGA1):c.776C>T (p.Thr259Met) rs144103035
NM_138413.4(HOGA1):c.793G>A (p.Ala265Thr)
NM_138413.4(HOGA1):c.834G>T (p.Ala278=) rs770050262
NM_138413.4(HOGA1):c.835-7T>A rs768061627
NM_138413.4(HOGA1):c.872T>C (p.Ile291Thr) rs1554875257
NM_138413.4(HOGA1):c.91AAG[1] (p.Lys32del) rs750736378

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