ClinVar Miner

List of variants reported as uncertain significance for Hypotonia with lactic acidemia and hyperammonemia by Illumina Laboratory Services, Illumina

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_020191.4(MRPS22):c.617C>T (p.Thr206Ile) rs76148008 0.00160
NM_020191.4(MRPS22):c.327A>G (p.Ala109=) rs138148950 0.00071
NM_020191.4(MRPS22):c.938C>T (p.Ser313Leu) rs147932653 0.00066
NM_020191.4(MRPS22):c.787C>T (p.Arg263Cys) rs147739245 0.00027
NM_020191.4(MRPS22):c.6G>A (p.Ala2=) rs144902770 0.00018
NM_020191.4(MRPS22):c.652A>G (p.Met218Val) rs201627731 0.00011
NM_020191.4(MRPS22):c.340-14T>A rs377459479 0.00010
NM_020191.4(MRPS22):c.1032_1035dup (p.Leu346fs) rs772578397 0.00007
NM_020191.4(MRPS22):c.172+7G>T rs777163637 0.00006
NM_020191.4(MRPS22):c.166G>A (p.Glu56Lys) rs1057269467 0.00003
NM_020191.4(MRPS22):c.172+11T>C rs374112977 0.00002
NM_020191.4(MRPS22):c.502C>T (p.Arg168Trp) rs544369132 0.00002
NM_020191.4(MRPS22):c.732G>A (p.Lys244=) rs755022329 0.00001
NM_020191.4(MRPS22):c.90G>A (p.Gln30=) rs772766573 0.00001
NM_020191.4(MRPS22):c.1045T>A (p.Tyr349Asn) rs886058024
NM_020191.4(MRPS22):c.64C>G (p.Arg22Gly) rs1176249861
NM_020191.4(MRPS22):c.878+13T>C rs1941178559

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