List of variants in gene ZC4H2 reported as likely pathogenic for hereditary skeletal muscle disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_018684.4(ZC4H2):c.174_178del (p.Glu58fs)	rs2147349682
NM_018684.4(ZC4H2):c.199C>T (p.Arg67Ter)	rs1131691616
NM_018684.4(ZC4H2):c.208C>T (p.His70Tyr)
NM_018684.4(ZC4H2):c.375AGA[1] (p.Glu128del)	rs750367160
NM_018684.4(ZC4H2):c.398+1_398+3del
NM_018684.4(ZC4H2):c.53+10513C>T	rs1931569117
NM_018684.4(ZC4H2):c.535_538dup (p.Arg180fs)	rs1929057804
NM_018684.4(ZC4H2):c.566G>C (p.Cys189Ser)
NM_018684.4(ZC4H2):c.592C>G (p.Arg198Gly)	rs137962226
NM_018684.4(ZC4H2):c.592C>T (p.Arg198Trp)	rs137962226
NM_018684.4(ZC4H2):c.631C>T (p.Arg211Trp)	rs1555933616

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