List of variants in gene BIN1 reported as pathogenic for myopathy, centronuclear, 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_139343.3(BIN1):c.700C>T (p.Arg234Cys)	rs777176261	0.00001
NM_139343.3(BIN1):c.1002+2T>C	rs1553458019
NM_139343.3(BIN1):c.105G>T (p.Lys35Asn)	rs121909273
NM_139343.3(BIN1):c.1713G>A (p.Trp571Ter)	rs587783343
NM_139343.3(BIN1):c.1723A>T (p.Lys575Ter)	rs121909275
NM_139343.3(BIN1):c.433C>T (p.Arg145Cys)	rs1249621033
NM_139343.3(BIN1):c.451G>A (p.Asp151Asn)	rs121909274
NM_139343.3(BIN1):c.461G>A (p.Arg154Gln)	rs267606681

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