ClinVar Miner

List of variants studied for infantile liver failure by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (7):
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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser) rs11090865 0.13476
NM_020117.11(LARS1):c.2212+13T>C rs114726414 0.00678
NM_018006.5(TRMU):c.387A>G (p.Ala129=) rs144586525 0.00478
NM_015909.4(NBAS):c.3928A>G (p.Thr1310Ala) rs35489395 0.00162
NM_018006.5(TRMU):c.-147C>A rs190351151 0.00097
NM_015909.4(NBAS):c.5596G>A (p.Val1866Ile) rs574477358 0.00043
NM_018006.5(TRMU):c.902A>G (p.Tyr301Cys) rs186961144 0.00020
NM_015909.4(NBAS):c.2012T>G (p.Phe671Cys) rs143212851 0.00017
NM_015909.4(NBAS):c.5251A>G (p.Ile1751Val) rs760807984 0.00014
NM_015909.4(NBAS):c.6022A>G (p.Ile2008Val) rs370669818 0.00014
NM_018006.5(TRMU):c.835G>A (p.Val279Met) rs387907022 0.00011
NM_015909.4(NBAS):c.5864T>C (p.Leu1955Ser) rs141793158 0.00010
NM_018006.5(TRMU):c.40G>A (p.Gly14Ser) rs751248771 0.00004
NM_015909.4(NBAS):c.7003C>T (p.Arg2335Trp) rs372119905 0.00003
NM_020117.11(LARS1):c.109T>G (p.Leu37Val) rs576752929 0.00003
NM_018006.5(TRMU):c.249-2A>G rs768299416 0.00002
NM_015909.4(NBAS):c.2990A>C (p.Glu997Ala) rs538592084 0.00001
NM_015909.4(NBAS):c.4295T>C (p.Val1432Ala) rs769425183 0.00001
NM_018006.5(TRMU):c.803del (p.Ala268fs) rs745338284 0.00001
NM_015909.4(NBAS):c.2950del (p.Ile984fs) rs776797592
NM_015909.4(NBAS):c.4300G>A (p.Asp1434Asn) rs750091340
NM_015909.4(NBAS):c.603_605del (p.Leu202del) rs796065038
NM_018006.5(TRMU):c.1019-1G>A rs773484808
NM_018006.5(TRMU):c.27C>T (p.Cys9=) rs1297282365
NM_018006.5(TRMU):c.333dup (p.His112fs) rs756600903
NM_018006.5(TRMU):c.356-2_356-1del rs2147053913
NM_018006.5(TRMU):c.87C>G (p.Tyr29Ter) rs769668643

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