List of variants in gene combination CAPN3, LOC126862115 reported as uncertain significance for autosomal recessive disease

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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: 26

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HGVS	dbSNP	gnomAD frequency
NM_000070.3(CAPN3):c.440G>A (p.Arg147Gln)	rs139671324	0.00003
NM_000070.3(CAPN3):c.478G>A (p.Ala160Thr)	rs749697583	0.00003
NM_000070.3(CAPN3):c.397G>T (p.Ala133Ser)	rs946415346	0.00001
NM_000070.3(CAPN3):c.398C>T (p.Ala133Val)	rs774685118	0.00001
NM_000070.3(CAPN3):c.425A>G (p.Gln142Arg)	rs1173872855	0.00001
NM_000070.3(CAPN3):c.433C>G (p.Leu145Val)	rs886044404	0.00001
NM_000070.3(CAPN3):c.452A>C (p.His151Pro)	rs766369281	0.00001
NM_000070.3(CAPN3):c.452A>G (p.His151Arg)	rs766369281	0.00001
NM_000070.3(CAPN3):c.461G>C (p.Ser154Thr)	rs1177741110	0.00001
NM_000070.3(CAPN3):c.469G>A (p.Glu157Lys)	rs200944841	0.00001
NM_000070.3(CAPN3):c.477C>T (p.Tyr159=)	rs1401194449	0.00001
NM_000070.3(CAPN3):c.387C>G (p.Cys129Trp)	rs1555420308
NM_000070.3(CAPN3):c.395T>C (p.Leu132Pro)	rs1555420309
NM_000070.3(CAPN3):c.397G>A (p.Ala133Thr)	rs946415346
NM_000070.3(CAPN3):c.412C>G (p.Leu138Val)	rs1042151947
NM_000070.3(CAPN3):c.433C>T (p.Leu145Phe)
NM_000070.3(CAPN3):c.439C>A (p.Arg147=)	rs878854364
NM_000070.3(CAPN3):c.451C>G (p.His151Asp)	rs886051148
NM_000070.3(CAPN3):c.459A>C (p.Gln153His)	rs2141160666
NM_000070.3(CAPN3):c.466A>G (p.Ile156Val)	rs780611743
NM_000070.3(CAPN3):c.468C>G (p.Ile156Met)
NM_000070.3(CAPN3):c.478G>C (p.Ala160Pro)	rs749697583
NM_000070.3(CAPN3):c.478G>T (p.Ala160Ser)	rs749697583
NM_000070.3(CAPN3):c.481G>A (p.Gly161Arg)	rs1566974488
NM_000070.3(CAPN3):c.484A>T (p.Ile162Phe)	rs1595819812
NM_000070.3(CAPN3):c.498+7T>A

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