List of variants in gene MRPL44 studied for Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_022915.5(MRPL44):c.827+18C>T	rs58911111	0.01453
NM_022915.5(MRPL44):c.496G>A (p.Val166Met)	rs141821599	0.00022
NM_022915.5(MRPL44):c.791C>G (p.Thr264Ser)	rs141166571	0.00013
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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