List of variants in gene COL12A1 reported as not provided for Ullrich congenital muscular dystrophy 2

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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: 15

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HGVS	dbSNP	gnomAD frequency
NM_004370.6(COL12A1):c.7885G>A (p.Glu2629Lys)	rs147044263	0.00047
NM_004370.6(COL12A1):c.4744A>C (p.Met1582Leu)	rs200520924	0.00045
NM_004370.6(COL12A1):c.7853C>T (p.Thr2618Met)	rs201988277	0.00033
NM_004370.6(COL12A1):c.5411G>A (p.Arg1804Gln)	rs200091648	0.00018
NM_004370.6(COL12A1):c.5501G>A (p.Arg1834Gln)	rs182768408	0.00018
NM_004370.6(COL12A1):c.1471G>C (p.Glu491Gln)	rs367630003	0.00016
NM_004370.6(COL12A1):c.5507C>T (p.Thr1836Met)	rs200108494	0.00008
NM_004370.6(COL12A1):c.2968G>T (p.Asp990Tyr)	rs201996851	0.00005
NM_004370.6(COL12A1):c.43G>T (p.Ala15Ser)	rs1453508139	0.00002
NM_004370.6(COL12A1):c.3508G>A (p.Val1170Ile)	rs201542066	0.00001
NM_004370.6(COL12A1):c.5230+1G>A	rs1274606112	0.00001
NM_004370.6(COL12A1):c.5620T>C (p.Tyr1874His)	rs1766439644	0.00001
NM_004370.6(COL12A1):c.6148G>T (p.Gly2050Trp)	rs947116571	0.00001
NM_004370.6(COL12A1):c.5194T>G (p.Ser1732Ala)	rs750726658
NM_004370.6(COL12A1):c.6728C>T (p.Thr2243Ile)	rs746250737

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