List of variants in gene combination COL12A1, LOC126859712 reported as likely benign 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: 32

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HGVS	dbSNP	gnomAD frequency
NM_004370.6(COL12A1):c.7302C>T (p.Asp2434=)	rs372068116	0.00009
NM_004370.6(COL12A1):c.7215G>A (p.Lys2405=)	rs568748031	0.00006
NM_004370.6(COL12A1):c.7257C>T (p.Ser2419=)	rs554342070	0.00005
NM_004370.6(COL12A1):c.7331C>T (p.Ala2444Val)	rs367980407	0.00005
NM_004370.6(COL12A1):c.7107C>T (p.Ser2369=)	rs754178898	0.00004
NM_004370.6(COL12A1):c.7087-14A>G	rs779399089	0.00002
NM_004370.6(COL12A1):c.7131G>A (p.Lys2377=)	rs1344927209	0.00002
NM_004370.6(COL12A1):c.7152G>A (p.Lys2384=)	rs1227090004	0.00001
NM_004370.6(COL12A1):c.7210+9A>G	rs369099620	0.00001
NM_004370.6(COL12A1):c.7224G>A (p.Thr2408=)	rs368333381	0.00001
NM_004370.6(COL12A1):c.7269G>A (p.Lys2423=)	rs776372586	0.00001
NM_004370.6(COL12A1):c.7087-11T>A	rs2149366872
NM_004370.6(COL12A1):c.7087-16del
NM_004370.6(COL12A1):c.7087-20C>T
NM_004370.6(COL12A1):c.7087-6C>T
NM_004370.6(COL12A1):c.7087-8T>C
NM_004370.6(COL12A1):c.7137C>T (p.Asn2379=)	rs2149366781
NM_004370.6(COL12A1):c.7143C>T (p.Tyr2381=)	rs2149366759
NM_004370.6(COL12A1):c.7146T>C (p.Asn2382=)	rs2149366746
NM_004370.6(COL12A1):c.7161C>A (p.Ala2387=)	rs2149366727
NM_004370.6(COL12A1):c.7189A>C (p.Arg2397=)
NM_004370.6(COL12A1):c.7200C>T (p.Asn2400=)
NM_004370.6(COL12A1):c.7210+19C>G	rs747884107
NM_004370.6(COL12A1):c.7210+7G>A
NM_004370.6(COL12A1):c.7211-11A>G
NM_004370.6(COL12A1):c.7211-16A>G
NM_004370.6(COL12A1):c.7211-19T>C
NM_004370.6(COL12A1):c.7230C>T (p.Ile2410=)	rs2149366384
NM_004370.6(COL12A1):c.7272T>C (p.Asn2424=)
NM_004370.6(COL12A1):c.7299G>A (p.Thr2433=)	rs35551395
NM_004370.6(COL12A1):c.7317T>C (p.Asp2439=)	rs2149366203
NM_004370.6(COL12A1):c.7326G>A (p.Lys2442=)

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