ClinVar Miner

List of variants reported as benign for inborn disorder of ornithine metabolism by Illumina Laboratory Services, Illumina

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000274.3(OAT):c.-94T>G rs4144117 0.82728
NM_000274.4(OAT):c.648+14A>G rs9422807 0.81973
NM_002860.4(ALDH18A1):c.*155G>A rs1053905 0.42481
NM_002860.4(ALDH18A1):c.2206+15G>A rs10882640 0.39029
NM_000274.4(OAT):c.1134C>T (p.Asn378=) rs11461 0.33660
NM_002860.4(ALDH18A1):c.*699C>T rs4037 0.28027
NM_002860.4(ALDH18A1):c.*412T>C rs8758 0.27959
NM_000274.4(OAT):c.*185C>T rs2459216 0.10300
NM_002860.4(ALDH18A1):c.896C>T (p.Thr299Ile) rs2275272 0.10214
NM_000274.4(OAT):c.*535T>C rs8182 0.06407
NM_002860.4(ALDH18A1):c.-79A>G rs117502632 0.03469
NM_002860.4(ALDH18A1):c.1770C>T (p.Ser590=) rs11541780 0.03433
NM_002860.4(ALDH18A1):c.1977C>T (p.Ser659=) rs1804934 0.02975
NM_002860.4(ALDH18A1):c.1029T>C (p.Ile343=) rs41291566 0.02201
NM_000274.4(OAT):c.-53C>T rs117824913 0.01420
NM_002860.4(ALDH18A1):c.1115C>A (p.Ser372Tyr) rs3765571 0.01418
NM_002860.4(ALDH18A1):c.*611G>A rs41291562 0.01242
NM_000274.4(OAT):c.200-10T>C rs80313473 0.00780
NM_002860.4(ALDH18A1):c.*140C>T rs76824727 0.00570
NM_002860.4(ALDH18A1):c.*56T>A rs114393346 0.00549
NM_000274.4(OAT):c.-38C>T rs9422945 0.00489
NM_002860.4(ALDH18A1):c.2001G>A (p.Glu667=) rs78731297 0.00326
NM_002860.4(ALDH18A1):c.1329C>T (p.Ile443=) rs117709404 0.00134
NM_002860.4(ALDH18A1):c.*227A>G rs943341 0.00129
NM_000274.4(OAT):c.-59G>C rs144950523

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