List of variants in gene combination COL6A3, LOC126806573 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: 34

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HGVS	dbSNP	gnomAD frequency
NM_004369.4(COL6A3):c.9498C>T (p.Leu3166=)	rs150376179	0.00029
NM_004369.4(COL6A3):c.9351C>T (p.Asp3117=)	rs148821986	0.00026
NM_004369.4(COL6A3):c.9444C>T (p.Asn3148=)	rs144291325	0.00019
NM_004369.4(COL6A3):c.9494-7C>T	rs374024399	0.00019
NM_004369.4(COL6A3):c.9394C>T (p.Pro3132Ser)	rs147533489	0.00009
NM_004369.4(COL6A3):c.9358A>C (p.Thr3120Pro)	rs141050617	0.00008
NM_004369.4(COL6A3):c.9499G>A (p.Ala3167Thr)	rs537511128	0.00004
NM_004369.4(COL6A3):c.9486C>T (p.Cys3162=)	rs757091142	0.00003
NM_004369.4(COL6A3):c.9380A>G (p.Lys3127Arg)	rs751270381	0.00002
NM_004369.4(COL6A3):c.9374T>C (p.Ile3125Thr)	rs1385929254	0.00001
NM_004369.4(COL6A3):c.9417A>G (p.Arg3139=)	rs1215789317	0.00001
NM_004369.4(COL6A3):c.9457G>C (p.Gly3153Arg)	rs769392747	0.00001
NM_004369.4(COL6A3):c.9459A>G (p.Gly3153=)	rs886044034	0.00001
NM_004369.4(COL6A3):c.9489T>A (p.Ala3163=)	rs367728719	0.00001
NM_004369.4(COL6A3):c.9407G>A (p.Ser3136Asn)	rs759514583
NM_004369.4(COL6A3):c.9435T>C (p.Cys3145=)	rs1446752971
NM_004369.4(COL6A3):c.9441A>G (p.Gly3147=)
NM_004369.4(COL6A3):c.9480G>A (p.Lys3160=)
NM_004369.4(COL6A3):c.9487G>A (p.Ala3163Thr)	rs553486570
NM_004369.4(COL6A3):c.9487G>C (p.Ala3163Pro)	rs553486570
NM_004369.4(COL6A3):c.9489T>C (p.Ala3163=)	rs367728719
NM_004369.4(COL6A3):c.9493+14C>T
NM_004369.4(COL6A3):c.9493+16T>C
NM_004369.4(COL6A3):c.9494-12C>G	rs957142857
NM_004369.4(COL6A3):c.9494-15TC[2]
NM_004369.4(COL6A3):c.9494-16C>G
NM_004369.4(COL6A3):c.9494-17C>A
NM_004369.4(COL6A3):c.9494-5C>T	rs886043555
NM_004369.4(COL6A3):c.9494-6G>A
NM_004369.4(COL6A3):c.9494-6G>T	rs367899223
NM_004369.4(COL6A3):c.9494-9G>A
NM_004369.4(COL6A3):c.9504A>G (p.Lys3168=)	rs1008454322
NM_004369.4(COL6A3):c.9507C>T (p.Pro3169=)
NM_004369.4(COL6A3):c.9523A>C (p.Met3175Leu)

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