List of variants in gene CAPN3 reported as uncertain significance for Limb-Girdle Muscular Dystrophy, Recessive

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_000070.3(CAPN3):c.-104G>C	rs149698681	0.01241
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu)	rs28364364	0.01193
NM_000070.3(CAPN3):c.2433T>C (p.Val811=)	rs28364543	0.01154
NM_000070.3(CAPN3):c.2381-12A>G	rs73402734	0.00578
NM_000070.3(CAPN3):c.-131G>T	rs113881834	0.00309
NM_000070.3(CAPN3):c.2264-11C>T	rs28364537	0.00195
NM_000070.3(CAPN3):c.525C>T (p.Asp175=)	rs144383442	0.00064
NM_000070.3(CAPN3):c.*202A>G	rs886051150	0.00051
NM_000070.3(CAPN3):c.2409A>G (p.Gly803=)	rs143139259	0.00036
NM_000070.3(CAPN3):c.1842G>C (p.Glu614Asp)	rs201607149	0.00029
NM_000070.3(CAPN3):c.*443A>C	rs886051152	0.00016
NM_000070.3(CAPN3):c.*534T>C	rs772498665	0.00016
NM_000070.3(CAPN3):c.1830C>T (p.Asn610=)	rs202019404	0.00016
NM_000070.3(CAPN3):c.*211G>A	rs112661890	0.00012
NM_000070.3(CAPN3):c.980C>G (p.Ala327Gly)	rs754441267	0.00010
NM_000070.3(CAPN3):c.-300C>G	rs886051147	0.00009
NM_000070.3(CAPN3):c.2269C>T (p.His757Tyr)	rs148246325	0.00009
NM_000070.3(CAPN3):c.1045G>C (p.Glu349Gln)	rs146403258	0.00008
NM_000070.3(CAPN3):c.1585G>A (p.Ala529Thr)	rs138857720	0.00006
NM_000070.3(CAPN3):c.1557C>T (p.His519=)	rs368385372	0.00004
NM_000070.3(CAPN3):c.1768G>A (p.Val590Met)	rs370809015	0.00003
NM_000070.3(CAPN3):c.938C>T (p.Pro313Leu)	rs752483058	0.00003
NM_000070.3(CAPN3):c.1637G>A (p.Arg546His)	rs762091599	0.00001
NM_000070.3(CAPN3):c.*170G>C	rs886051149
NM_000070.3(CAPN3):c.*436del	rs774244796
NM_000070.3(CAPN3):c.482_485dup	rs780202767
NM_000070.3(CAPN3):c.2088C>T (p.Ser696=)	rs867628179
NM_000070.3(CAPN3):c.618G>A (p.Glu206=)	rs541597520

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