List of variants reported as pathogenic for Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_022915.5(MRPL44):c.233G>A (p.Arg78Gln)	rs761343107
NM_022915.5(MRPL44):c.467T>C (p.Leu156Pro)	rs143697995
NM_022915.5(MRPL44):c.467T>G (p.Leu156Arg)	rs143697995
NM_022915.5(MRPL44):c.481_484delinsTC (p.Thr161fs)	rs2106116608

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