List of variants in gene RYR1 reported as likely pathogenic for thoracic malformation

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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: 7

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)	rs200546266	0.00010
NM_000540.3(RYR1):c.2167G>A (p.Gly723Arg)	rs755496104	0.00001
NM_000540.3(RYR1):c.10018G>A (p.Val3340Met)	rs1600892115
NM_000540.3(RYR1):c.13998G>A (p.Lys4666=)	rs1599649479
NM_000540.3(RYR1):c.1835C>A (p.Ala612Asp)	rs1600682739
NM_000540.3(RYR1):c.7298T>C (p.Leu2433Pro)	rs1600822174
NM_000540.3(RYR1):c.8024C>A (p.Thr2675Lys)	rs1600843056

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