List of variants in gene CAPN3 reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr)	rs148044781	0.00026
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys)	rs149914792	0.00008
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu)	rs749863676	0.00004
GRCh37/hg19 15q15.1(chr15:42684837-42686539)x1
NM_000070.3(CAPN3):c.1485del (p.Ala497fs)	rs1595837172
NM_000070.3(CAPN3):c.1745+4_1745+7del	rs794727082
NM_000070.3(CAPN3):c.2440-6_2440-3del	rs1555423426
NM_000070.3(CAPN3):c.700G>T (p.Gly234Trp)	rs886042440

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