List of variants in gene CACNA1S reported as pathogenic for Congenital myopathy 18

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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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000069.3(CACNA1S):c.665T>A (p.Met222Lys)	rs1287586310	0.00003
NM_000069.3(CACNA1S):c.2365C>T (p.Arg789Cys)	rs148895719	0.00001
NM_000069.3(CACNA1S):c.2366G>A (p.Arg789His)	rs1157720606	0.00001
NM_000069.3(CACNA1S):c.1189_1190del (p.Ser397fs)	rs1322458975
NM_000069.3(CACNA1S):c.2224C>T (p.Pro742Ser)	rs2464546834
NM_000069.3(CACNA1S):c.2225C>A (p.Pro742Gln)	rs2102135828
NM_000069.3(CACNA1S):c.2371del (p.Leu791fs)	rs2464536840
NM_000069.3(CACNA1S):c.4099C>G (p.Leu1367Val)	rs1660628086
NM_000069.3(CACNA1S):c.4453C>T (p.Gln1485Ter)	rs1282907317
NM_000069.3(CACNA1S):c.4967del (p.Leu1656fs)	rs1660352437
NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter)	rs550371466
NM_000069.3(CACNA1S):c.825C>A (p.Phe275Leu)	rs767806564

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