ClinVar Miner

List of variants in gene HMBS studied for porphyria

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 121
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HGVS dbSNP gnomAD frequency
NM_000190.4(HMBS):c.88-14G>A rs17075 0.61715
NM_000190.4(HMBS):c.-65C>T rs589925 0.34900
NM_000190.4(HMBS):c.-28A>C rs201349602 0.00371
NM_000190.4(HMBS):c.210+5C>A rs79983883 0.00102
NM_000190.4(HMBS):c.135G>A (p.Ser45=) rs146801283 0.00070
NM_000190.4(HMBS):c.1020C>T (p.Asn340=) rs146585331 0.00057
NM_000190.4(HMBS):c.257A>T (p.Glu86Val) rs150763621 0.00051
NM_000190.4(HMBS):c.1075G>A (p.Asp359Asn) rs144949995 0.00039
NM_000190.4(HMBS):c.*101G>A rs565181447 0.00033
NM_000190.4(HMBS):c.134C>T (p.Ser45Leu) rs138776835 0.00028
NM_000190.4(HMBS):c.674G>A (p.Arg225Gln) rs142459647 0.00023
NM_000190.4(HMBS):c.1026G>A (p.Leu342=) rs199845143 0.00016
NM_000190.4(HMBS):c.723C>T (p.Pro241=) rs202067277 0.00012
NM_000190.4(HMBS):c.717C>T (p.His239=) rs114025170 0.00011
NM_000190.4(HMBS):c.612+4G>A rs745705652 0.00009
NM_000190.4(HMBS):c.798C>T (p.Ala266=) rs375078473 0.00008
NM_000190.4(HMBS):c.26C>A (p.Ala9Glu) rs148084355 0.00006
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln) rs118204095 0.00006
NM_000190.4(HMBS):c.737G>A (p.Arg246His) rs201909197 0.00005
NM_000190.4(HMBS):c.1063C>T (p.Arg355Trp) rs769409620 0.00004
NM_000190.4(HMBS):c.499C>T (p.Arg167Trp) rs118204101 0.00004
NM_000190.4(HMBS):c.601C>T (p.Arg201Trp) rs118204109 0.00004
NM_000190.4(HMBS):c.655G>T (p.Ala219Ser) rs767103817 0.00004
NM_000190.4(HMBS):c.65G>A (p.Arg22His) rs760087108 0.00004
NM_000190.4(HMBS):c.885G>A (p.Met295Ile) rs749688624 0.00004
NM_000190.4(HMBS):c.925C>T (p.Pro309Ser) rs746707121 0.00004
NM_000190.4(HMBS):c.974G>A (p.Arg325Gln) rs781674367 0.00004
NM_000190.4(HMBS):c.992C>T (p.Ala331Val) rs770086296 0.00004
NM_000190.4(HMBS):c.303C>T (p.Pro101=) rs139147408 0.00003
NM_000190.4(HMBS):c.724G>A (p.Glu242Lys) rs761810461 0.00003
NM_000190.4(HMBS):c.105G>C (p.Thr35=) rs370081222 0.00002
NM_000190.4(HMBS):c.160A>C (p.Ile54Leu) rs368061837 0.00002
NM_000190.4(HMBS):c.64C>T (p.Arg22Cys) rs189159450 0.00002
NM_000190.4(HMBS):c.*194A>G rs886047756 0.00001
NM_000190.4(HMBS):c.163G>T (p.Ala55Ser) rs118204106 0.00001
NM_000190.4(HMBS):c.345-9C>T rs772934410 0.00001
NM_000190.4(HMBS):c.346C>T (p.Arg116Trp) rs118204094 0.00001
NM_000190.4(HMBS):c.347G>A (p.Arg116Gln) rs1165046276 0.00001
NM_000190.4(HMBS):c.517C>T (p.Arg173Trp) rs575222284 0.00001
NM_000190.4(HMBS):c.583C>T (p.Arg195Cys) rs34413634 0.00001
NM_000190.4(HMBS):c.754G>A (p.Ala252Thr) rs118204113 0.00001
NM_000190.4(HMBS):c.768C>A (p.His256Gln) rs758794172 0.00001
NM_000190.4(HMBS):c.815A>C (p.Lys272Thr) rs1057519252 0.00001
NM_000190.4(HMBS):c.889G>T (p.Ala297Ser) rs772616498 0.00001
NM_000190.4(HMBS):c.91G>A (p.Ala31Thr) rs118204104 0.00001
NG_008093.1:g.9237_9238insAluYa59225_9237dup
NM_000190.4(HMBS):c.*153G>A rs550995668
NM_000190.4(HMBS):c.*94T>C rs886047755
NM_000190.4(HMBS):c.100C>A (p.Gln34Lys) rs118204105
NM_000190.4(HMBS):c.104C>T (p.Thr35Met) rs974712040
NM_000190.4(HMBS):c.1078_*46del (p.Ala360fs) rs1555206402
NM_000190.4(HMBS):c.13G>A (p.Gly5Ser) rs1565750711
NM_000190.4(HMBS):c.160+5G>C rs1592213590
NM_000190.4(HMBS):c.160_160+1del
NM_000190.4(HMBS):c.174del (p.Thr59fs) rs1565754285
NM_000190.4(HMBS):c.181G>T (p.Asp61Tyr) rs2134859037
NM_000190.4(HMBS):c.181dup (p.Asp61fs) rs1565754296
NM_000190.4(HMBS):c.186G>C (p.Lys62Asn) rs1402435019
NM_000190.4(HMBS):c.210+1G>C rs2134859316
NM_000190.4(HMBS):c.211-1G>A rs1565754452
NM_000190.4(HMBS):c.211-1G>T rs1565754452
NM_000190.4(HMBS):c.219_220del (p.Ser75fs) rs1592214498
NM_000190.4(HMBS):c.232A>T (p.Thr78Ser) rs1565754479
NM_000190.4(HMBS):c.266+1G>C rs1565754565
NM_000190.4(HMBS):c.266+4A>T rs1004988273
NM_000190.4(HMBS):c.275T>C (p.Leu92Pro) rs1946187914
NM_000190.4(HMBS):c.277_291del (p.Val93_Leu97del)
NM_000190.4(HMBS):c.331G>A (p.Gly111Arg) rs118204107
NM_000190.4(HMBS):c.364G>C (p.Ala122Pro) rs143984293
NM_000190.4(HMBS):c.400del (p.Thr133_Leu134insTer) rs1057518886
NM_000190.4(HMBS):c.413C>T (p.Pro138Leu)
NM_000190.4(HMBS):c.445C>T (p.Arg149Ter) rs118204120
NM_000190.4(HMBS):c.446G>A (p.Arg149Gln) rs118204098
NM_000190.4(HMBS):c.463C>T (p.Gln155Ter) rs118204097
NM_000190.4(HMBS):c.499-1G>A rs1565756481
NM_000190.4(HMBS):c.500G>C (p.Arg167Pro) rs118204095
NM_000190.4(HMBS):c.500G>T (p.Arg167Leu) rs118204095
NM_000190.4(HMBS):c.518G>A (p.Arg173Gln) rs118204096
NM_000190.4(HMBS):c.518G>C (p.Arg173Pro)
NM_000190.4(HMBS):c.530T>G (p.Leu177Arg) rs118204108
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn) rs536814318
NM_000190.4(HMBS):c.580C>T (p.Gln194Ter)
NM_000190.4(HMBS):c.584G>A (p.Arg195His) rs1364712093
NM_000190.4(HMBS):c.593G>A (p.Trp198Ter) rs118204100
NM_000190.4(HMBS):c.605dup (p.Gln204fs)
NM_000190.4(HMBS):c.612G>T (p.Gln204His) rs1592217847
NM_000190.4(HMBS):c.613-19C>A rs1784304
NM_000190.4(HMBS):c.613-1G>A rs771206317
NM_000190.4(HMBS):c.615C>G (p.Ile205Met) rs774594843
NM_000190.4(HMBS):c.643G>A (p.Val215Met)
NM_000190.4(HMBS):c.647G>A (p.Gly216Asp) rs118204116
NM_000190.4(HMBS):c.654G>A (p.Gly218=) rs1350355238
NM_000190.4(HMBS):c.667G>A (p.Glu223Lys) rs118204110
NM_000190.4(HMBS):c.669_698del (p.Glu223_Leu232del) rs1555206128
NM_000190.4(HMBS):c.723C>G (p.Pro241=) rs202067277
NM_000190.4(HMBS):c.730_731del (p.Leu244fs) rs1565757839
NM_000190.4(HMBS):c.734T>G (p.Leu245Arg) rs118204099
NM_000190.4(HMBS):c.734_741dup (p.Ile248fs) rs1565757857
NM_000190.4(HMBS):c.739T>C (p.Cys247Arg) rs118204111
NM_000190.4(HMBS):c.748G>A (p.Glu250Lys) rs118204112
NM_000190.4(HMBS):c.755C>T (p.Ala252Val) rs118204114
NM_000190.4(HMBS):c.760del (p.Phe253_Leu254insTer)
NM_000190.4(HMBS):c.766C>A (p.His256Asn) rs118204115
NM_000190.4(HMBS):c.76C>T (p.Arg26Cys) rs998842815
NM_000190.4(HMBS):c.771+1G>C rs1565758008
NM_000190.4(HMBS):c.771G>A (p.Leu257=) rs1555206170
NM_000190.4(HMBS):c.772-2A>G
NM_000190.4(HMBS):c.77G>A (p.Arg26His) rs118204103
NM_000190.4(HMBS):c.815del (p.Lys272fs)
NM_000190.4(HMBS):c.826-2A>T rs1946317952
NM_000190.4(HMBS):c.847_848del (p.Trp283fs) rs1592220835
NM_000190.4(HMBS):c.849G>A (p.Trp283Ter) rs118204117
NM_000190.4(HMBS):c.874C>T (p.Gln292Ter) rs1592220915
NM_000190.4(HMBS):c.88-27_88-12del
NM_000190.4(HMBS):c.891dup (p.Thr298fs) rs1565758795
NM_000190.4(HMBS):c.900del (p.His300fs) rs1565758825
NM_000190.4(HMBS):c.912+1G>C
NM_000190.4(HMBS):c.913-1G>A rs1946325053
NM_000190.4(HMBS):c.962G>A (p.Arg321His) rs150428209
NM_000190.4(HMBS):c.973C>T (p.Arg325Ter) rs2134885779
NM_000190.4(HMBS):c.9_33+11del

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