ClinVar Miner

List of variants reported as likely benign for acute intermittent porphyria

Included ClinVar conditions (1):
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001382.4(DPAGT1):c.*427T>G rs28990975 0.01379
NM_005689.4(ABCB6):c.1762G>A (p.Gly588Ser) rs145526996 0.00431
NM_000190.4(HMBS):c.-28A>C rs201349602 0.00371
NM_001382.4(DPAGT1):c.*159G>A rs74992671 0.00320
NM_005689.4(ABCB6):c.575G>A (p.Arg192Gln) rs150221689 0.00303
NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val) rs138544311 0.00172
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_001382.4(DPAGT1):c.*265A>G rs28990974 0.00029
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.105G>C (p.Thr35=) rs370081222 0.00002
NM_000190.4(HMBS):c.962G>A (p.Arg321His) rs150428209

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