ClinVar Miner

List of variants in gene ALAD studied for acute hepatic porphyria

Included ClinVar conditions (14):
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Gene type:
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Total variants: 61
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HGVS dbSNP
ALAD, IVS3AS, C-A, -11
NM_000031.6(ALAD):c.*106C>G rs8177820
NM_000031.6(ALAD):c.*127C>T rs561104906
NM_000031.6(ALAD):c.*1464A>G rs559359572
NM_000031.6(ALAD):c.*1470G>A rs886063360
NM_000031.6(ALAD):c.*1511T>C rs745513769
NM_000031.6(ALAD):c.*1631G>A rs886063359
NM_000031.6(ALAD):c.*1675C>T rs756771103
NM_000031.6(ALAD):c.*1741G>A rs886063358
NM_000031.6(ALAD):c.*1811_*1812del rs142213018
NM_000031.6(ALAD):c.*1864A>C rs886063357
NM_000031.6(ALAD):c.*1915del rs886063356
NM_000031.6(ALAD):c.*1950G>A rs818706
NM_000031.6(ALAD):c.*381G>A rs886063363
NM_000031.6(ALAD):c.*400G>A rs557867804
NM_000031.6(ALAD):c.*422G>T rs41276805
NM_000031.6(ALAD):c.*438G>C rs886063362
NM_000031.6(ALAD):c.*459_*463del rs886063361
NM_000031.6(ALAD):c.*471C>T rs818708
NM_000031.6(ALAD):c.*613G>A rs818707
NM_000031.6(ALAD):c.*676dup rs532401659
NM_000031.6(ALAD):c.*813A>G rs138705750
NM_000031.6(ALAD):c.*871C>A rs8177822
NM_000031.6(ALAD):c.-131C>T rs531786276
NM_000031.6(ALAD):c.-4C>T rs755977870
NM_000031.6(ALAD):c.-76+15G>T rs756965057
NM_000031.6(ALAD):c.15C>T (p.Ser5=) rs144608303
NM_000031.6(ALAD):c.165-11C>T rs749066913
NM_000031.6(ALAD):c.168T>C (p.Tyr56=) rs1139488
NM_000031.6(ALAD):c.16G>A (p.Val6Ile) rs766501537
NM_000031.6(ALAD):c.177G>C (p.Lys59Asn) rs1800435
NM_000031.6(ALAD):c.1A>G (p.Met1Val) rs752500552
NM_000031.6(ALAD):c.264C>T (p.Asp88=) rs377534006
NM_000031.6(ALAD):c.29G>C (p.Gly10Ala) rs199655229
NM_000031.6(ALAD):c.397+12C>T rs8177805
NM_000031.6(ALAD):c.397G>A (p.Gly133Arg) rs121912980
NM_000031.6(ALAD):c.414C>T (p.Asn138=) rs2228083
NM_000031.6(ALAD):c.439C>T (p.Arg147Cys) rs777664535
NM_000031.6(ALAD):c.463T>C (p.Leu155=) rs8177807
NM_000031.6(ALAD):c.501G>A (p.Pro167=) rs376714503
NM_000031.6(ALAD):c.520C>T (p.Arg174Cys) rs758622234
NM_000031.6(ALAD):c.521G>A (p.Arg174His) rs750462706
NM_000031.6(ALAD):c.678G>T (p.Leu226=) rs190497588
NM_000031.6(ALAD):c.715-14C>A rs201135240
NM_000031.6(ALAD):c.718C>T (p.Arg240Trp) rs121912982
NM_000031.6(ALAD):c.724G>A (p.Val242Ile) rs200180791
NM_000031.6(ALAD):c.72C>T (p.Thr24=) rs1805314
NM_000031.6(ALAD):c.820G>A (p.Ala274Thr) rs121912983
NM_000031.6(ALAD):c.823G>A (p.Val275Met) rs121912981
NM_000031.6(ALAD):c.897C>T (p.Ala299=) rs370242589
NM_000031.6(ALAD):c.931+15G>A rs886063364
NM_000031.6(ALAD):c.940A>G (p.Ile314Val) rs557510313
NM_001003945.2(ALAD):c.-234C>G rs7026518
NM_001003945.2(ALAD):c.-234dup rs143518565
NM_001003945.2(ALAD):c.-235C>A rs562413861
NM_001003945.2(ALAD):c.-235_-234dup rs143518565
NM_001003945.2(ALAD):c.-235_-234insGC rs879417667
NM_001003945.2(ALAD):c.-237_-234dup rs143518565
NM_001003945.2(ALAD):c.-239_-238insA rs886063365
NM_001003945.2(ALAD):c.-256C>T rs28550589
NM_001003945.2(ALAD):c.-276G>T rs376588496

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