List of variants in gene CAV3 reported by Leiden Muscular Dystrophy (CAV3)

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_033337.3(CAV3):c.99C>T (p.Asn33=)	rs1008642	0.35756
NM_033337.2(CAV3):c.-106G>A	rs2072583	0.24982
NM_033337.3(CAV3):c.27C>T (p.Leu9=)	rs1974763	0.08452
NM_033337.3(CAV3):c.114+26G>A	rs11922879	0.08126
NM_033337.2(CAV3):c.-122C>T	rs918317	0.01720
NM_033337.3(CAV3):c.-37G>A	rs116840771	0.00282
NM_033337.3(CAV3):c.114+99T>C	rs4686299	0.00003
NM_033337.3(CAV3):c.100G>A (p.Glu34Lys)	rs199476325	0.00001
NM_033337.3(CAV3):c.114+2T>C	rs116840787
NM_033337.3(CAV3):c.13dup (p.Glu5fs)	rs199476323
NM_033337.3(CAV3):c.40G>C (p.Val14Leu)	rs121909281
NM_033337.3(CAV3):c.79C>G (p.Arg27Gly)	rs199476324
NM_033337.3(CAV3):c.80G>C (p.Arg27Pro)	rs116840778
NM_033337.3(CAV3):c.84C>A (p.Asp28Glu)	rs116840782
NM_033337.3(CAV3):c.85C>A (p.Pro29Thr)	rs116840785
NM_033337.3(CAV3):c.86C>T (p.Pro29Leu)	rs116840786
NM_033337.3(CAV3):c.99C>G (p.Asn33Lys)	rs1008642

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