List of variants in gene COL12A1, LOC129996730 studied for Ullrich congenital muscular dystrophy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_004370.6(COL12A1):c.4417+15_4417+19del	rs768514093	0.00001
NM_004370.6(COL12A1):c.4414dup (p.Thr1472fs)	rs1767268002
NM_004370.6(COL12A1):c.4417+2_4417+3del
NM_004370.6(COL12A1):c.4417+4A>G	rs2149409130
NM_004370.6(COL12A1):c.4417+5G>A
NM_004370.6(COL12A1):c.4417+9G>A

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