List of variants in gene combination CAV3, OXTR reported as pathogenic for Rippling muscle disease 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: 9

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HGVS	dbSNP	gnomAD frequency
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp)	rs116840776	0.00164
NM_033337.3(CAV3):c.260T>C (p.Leu87Pro)	rs28936685	0.00001
NM_033337.3(CAV3):c.136G>A (p.Ala46Thr)	rs116840789
NM_033337.3(CAV3):c.137C>T (p.Ala46Val)	rs116840773
NM_033337.3(CAV3):c.139G>A (p.Glu47Lys)	rs116840793
NM_033337.3(CAV3):c.189_197del (p.Thr64_Thr66del)	rs199476331
NM_033337.3(CAV3):c.277G>A (p.Ala93Thr)	rs28936686
NM_033337.3(CAV3):c.290_292del (p.Phe97del)	rs199476335
NM_033337.3(CAV3):c.314C>T (p.Pro105Leu)	rs116840805

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