ClinVar Miner

List of variants reported as benign for Acute intermittent porphyria

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Total variants: 22
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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_005689.4(ABCB6):c.1028G>A (p.Arg343Gln) rs60322991 0.04800
NM_005689.4(ABCB6):c.826C>T (p.Arg276Trp) rs57467915 0.00979
NM_005689.4(ABCB6):c.1562C>G (p.Thr521Ser) rs149363094 0.00792
NM_005689.4(ABCB6):c.1474G>A (p.Ala492Thr) rs147445258 0.00672
NM_000190.4(HMBS):c.-28A>C rs201349602 0.00371
NM_005689.4(ABCB6):c.574C>T (p.Arg192Trp) rs149202834 0.00166
NM_005689.4(ABCB6):c.739C>T (p.Arg247Cys) rs190528998 0.00115
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.1075G>A (p.Asp359Asn) rs144949995 0.00039
NM_000190.4(HMBS):c.134C>T (p.Ser45Leu) rs138776835 0.00028
NM_000190.4(HMBS):c.303C>T (p.Pro101=) rs139147408 0.00003
NM_005689.4(ABCB6):c.2185G>A (p.Gly729Ser) rs541845688 0.00001
NM_000190.4(HMBS):c.613-19C>A rs1784304
NM_000190.4(HMBS):c.962G>A (p.Arg321His) rs150428209

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