ClinVar Miner

List of variants studied for liver failure by OMIM

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_018006.5(TRMU):c.835G>A (p.Val279Met) rs387907022 0.00011
NM_021930.6(RINT1):c.1333+1G>A rs375350359 0.00005
NM_015909.4(NBAS):c.2423+404G>C rs1019313682 0.00004
NM_015909.4(NBAS):c.2617C>T (p.Arg873Trp) rs897487519 0.00003
NM_018006.5(TRMU):c.1102-3C>G rs753039116 0.00002
NM_020117.11(LARS1):c.1118A>G (p.Tyr373Cys) rs201861847 0.00002
NM_015909.4(NBAS):c.2708T>G (p.Leu903Arg) rs368196005 0.00001
NM_021930.6(RINT1):c.1102G>A (p.Ala368Thr) rs545894353 0.00001
NM_015909.4(NBAS):c.3164T>C (p.Leu1055Pro) rs796052121
NM_015909.4(NBAS):c.558_560del (p.Ile187del) rs796065037
NM_015909.4(NBAS):c.603_605del (p.Leu202del) rs796065038
NM_015909.4(NBAS):c.686dup (p.Ser230fs) rs759315662
NM_018006.5(TRMU):c.229T>C (p.Tyr77His) rs118203990
NM_018006.5(TRMU):c.2T>A (p.Met1Lys) rs118203992
NM_018006.5(TRMU):c.706-1G>A rs778799889
NM_018006.5(TRMU):c.815G>A (p.Gly272Asp) rs118203991
NM_021930.6(RINT1):c.1109T>C (p.Leu370Pro) rs1562849964
NM_021930.6(RINT1):c.1333+1G>T rs375350359
NM_021930.6(RINT1):c.1853_1858del (p.Val618_Lys619del) rs1554367227

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