List of variants reported as pathogenic for autosomal recessive limb-girdle muscular dystrophy type 2H

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_012210.4(TRIM32):c.1181G>A (p.Arg394His)	rs121434447	0.00002
NM_012210.4(TRIM32):c.1459G>A (p.Asp487Asn)	rs111033570	0.00001
NM_012210.4(TRIM32):c.1837C>T (p.Arg613Ter)	rs199664043	0.00001
NM_012210.4(TRIM32):c.1201A>T (p.Lys401Ter)	rs747266069
NM_012210.4(TRIM32):c.1560del (p.Cys521fs)	rs1588218453
NM_012210.4(TRIM32):c.1603del (p.Leu535fs)	rs2132075382

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