ClinVar Miner

List of variants in gene HMBS reported as likely benign for hepatic porphyria

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000190.4(HMBS):c.-28A>C rs201349602 0.00371
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.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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