ClinVar Miner

List of variants reported as likely pathogenic for porphyria

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06200
NM_000097.7(CPOX):c.1210A>G (p.Lys404Glu) rs121917868 0.00009
NM_000140.5(FECH):c.1001C>T (p.Pro334Leu) rs150146721 0.00006
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln) rs118204095 0.00006
NM_000031.6(ALAD):c.397G>A (p.Gly133Arg) rs121912980 0.00005
NM_000190.4(HMBS):c.601C>T (p.Arg201Trp) rs118204109 0.00004
NM_000097.7(CPOX):c.601G>A (p.Glu201Lys) rs1374394802 0.00003
NM_000140.5(FECH):c.913G>T (p.Val305Phe) rs765518889 0.00002
NM_000410.4(HFE):c.546_547del (p.Leu183fs) rs765804978 0.00002
NM_000140.5(FECH):c.599-3C>T rs765069812 0.00001
NM_000140.5(FECH):c.854A>G (p.Gln285Arg) rs370708663 0.00001
NM_000190.4(HMBS):c.583C>T (p.Arg195Cys) rs34413634 0.00001
NM_000374.5(UROD):c.138T>A (p.Phe46Leu) rs769378741 0.00001
NM_000374.5(UROD):c.424C>T (p.Arg142Ter) rs780227281 0.00001
NM_000374.5(UROD):c.616C>T (p.Gln206Ter) rs771824413 0.00001
NM_000374.5(UROD):c.932A>G (p.Tyr311Cys) rs121918061 0.00001
NM_000375.3(UROS):c.7G>T (p.Val3Phe) rs773301339 0.00001
NM_001122764.3(PPOX):c.503G>A (p.Arg168His) rs41270025 0.00001
NM_000031.6(ALAD):c.165-2A>G
NM_000032.5(ALAS2):c.304+2T>C
NM_000097.7(CPOX):c.488_509delinsAGCTGCTGATTCTGG (p.Val163fs)
NM_000097.7(CPOX):c.700+2T>C rs1576304776
NM_000097.7(CPOX):c.946A>T (p.Lys316Ter)
NM_000140.5(FECH):c.181C>T (p.Gln61Ter) rs2122357230
NM_000140.5(FECH):c.343C>T (p.Arg115Ter)
NM_000140.5(FECH):c.365del (p.Gln122fs) rs1599003455
NM_000140.5(FECH):c.47del (p.Gly16fs) rs2051380165
NM_000140.5(FECH):c.672T>G (p.Ile224Met)
NM_000140.5(FECH):c.835G>A (p.Glu279Lys)
NM_000190.4(HMBS):c.104C>T (p.Thr35Met) rs974712040
NM_000190.4(HMBS):c.181G>T (p.Asp61Tyr) rs2134859037
NM_000190.4(HMBS):c.275T>C (p.Leu92Pro) rs1946187914
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.413C>T (p.Pro138Leu)
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn) rs536814318
NM_000190.4(HMBS):c.580C>T (p.Gln194Ter)
NM_000190.4(HMBS):c.605dup (p.Gln204fs)
NM_000190.4(HMBS):c.667G>A (p.Glu223Lys) rs118204110
NM_000190.4(HMBS):c.76C>T (p.Arg26Cys) rs998842815
NM_000190.4(HMBS):c.815del (p.Lys272fs)
NM_000190.4(HMBS):c.826-2A>T rs1946317952
NM_000190.4(HMBS):c.874C>T (p.Gln292Ter) rs1592220915
NM_000190.4(HMBS):c.891dup (p.Thr298fs) rs1565758795
NM_000374.5(UROD):c.101G>A (p.Trp34Ter)
NM_000374.5(UROD):c.186dup (p.Glu63Ter)
NM_000374.5(UROD):c.583_611del (p.Leu195fs) rs2148982945
NM_000374.5(UROD):c.725del (p.Lys242fs)
NM_000374.5(UROD):c.758dup (p.Ala254fs)
NM_001122764.3(PPOX):c.1291+1G>T rs1571418365
NM_001122764.3(PPOX):c.313dup (p.Leu105fs)
NM_001122764.3(PPOX):c.502C>T (p.Arg168Cys) rs121918325
NM_001122764.3(PPOX):c.869-3_869-2del rs1558033572
NM_001122764.3(PPOX):c.87+1G>A
NM_006660.5(CLPX):c.893G>A (p.Gly298Asp) rs1555412542

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