ClinVar Miner

List of variants studied for Acute intermittent porphyria by Illumina Laboratory Services, Illumina

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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_000190.4(HMBS):c.88-14G>A rs17075 0.61715
NM_001382.4(DPAGT1):c.1177A>G (p.Ile393Val) rs643788 0.38193
NM_001382.4(DPAGT1):c.*184G>A rs8551 0.37865
NM_000190.4(HMBS):c.-65C>T rs589925 0.34900
NM_001382.4(DPAGT1):c.*417T>C rs7759 0.29923
NM_000190.4(HMBS):c.606G>T (p.Val202=) rs1131488 0.23280
NM_001382.4(DPAGT1):c.*427T>G rs28990975 0.01379
NM_000190.4(HMBS):c.-28A>C rs201349602 0.00371
NM_001382.4(DPAGT1):c.*159G>A rs74992671 0.00320
NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val) rs138544311 0.00172
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_001382.4(DPAGT1):c.*265A>G rs28990974 0.00029
NM_000190.4(HMBS):c.134C>T (p.Ser45Leu) rs138776835 0.00028
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.601C>T (p.Arg201Trp) rs118204109 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.303C>T (p.Pro101=) rs139147408 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.*194A>G rs886047756 0.00001
NM_000190.4(HMBS):c.345-9C>T rs772934410 0.00001
NM_000190.4(HMBS):c.347G>A (p.Arg116Gln) rs1165046276 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.889G>T (p.Ala297Ser) rs772616498 0.00001
NM_000190.4(HMBS):c.*153G>A rs550995668
NM_000190.4(HMBS):c.*94T>C rs886047755
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn) rs536814318
NM_000190.4(HMBS):c.615C>G (p.Ile205Met) rs774594843
NM_000190.4(HMBS):c.654G>A (p.Gly218=) rs1350355238
NM_000190.4(HMBS):c.723C>G (p.Pro241=) rs202067277
NM_000190.4(HMBS):c.962G>A (p.Arg321His) rs150428209

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