List of variants reported as pathogenic for Hypotonia with lactic acidemia and hyperammonemia

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_020191.4(MRPS22):c.509G>A (p.Arg170His)	rs119478059	0.00012
NM_020191.4(MRPS22):c.1032_1035dup (p.Leu346fs)	rs772578397	0.00007
NM_020191.4(MRPS22):c.644T>C (p.Leu215Pro)	rs387906924
NM_020191.4(MRPS22):c.648+1G>T
NM_020191.4(MRPS22):c.758T>C (p.Ile253Thr)	rs761121831
NM_020191.4(MRPS22):c.874_875del (p.Asp292fs)	rs775852045

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