List of variants in gene COL6A2 studied for BETHLEM MYOPATHY 1B, AUTOSOMAL RECESSIVE

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

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001849.4(COL6A2):c.2611G>A (p.Asp871Asn)	rs387906610	0.00001
NM_001849.3(COL6A2):c.[2489G>A;2527C>T]
NM_001849.4(COL6A2):c.1096C>T (p.Arg366Ter)	rs387906609
NM_001849.4(COL6A2):c.2455C>T (p.Gln819Ter)	rs121912942
NM_001849.4(COL6A2):c.2665C>T (p.Gln889Ter)	rs1241180076
NM_001849.4(COL6A2):c.780_781insCCCCCC (p.Pro260_Lys261insProPro)	rs2516992917

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