List of variants in gene GNPAT reported as likely benign for Rhizomelic chondrodysplasia punctata type 2

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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: 10

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HGVS	dbSNP	gnomAD frequency
NM_014236.4(GNPAT):c.1483G>A (p.Val495Ile)	rs11122266	0.01237
NM_014236.4(GNPAT):c.555A>T (p.Ile185=)	rs34613633	0.00339
NM_014236.4(GNPAT):c.1056-20C>A	rs114267453	0.00176
NM_014236.4(GNPAT):c.925-16G>A	rs41305723	0.00157
NM_014236.4(GNPAT):c.1212T>C (p.Ala404=)	rs143205045	0.00110
NM_014236.4(GNPAT):c.1095T>C (p.Phe365=)	rs139272614	0.00036
NM_014236.4(GNPAT):c.1308G>A (p.Pro436=)	rs151138534	0.00005
NM_014236.4(GNPAT):c.1482A>G (p.Leu494=)	rs894887033	0.00004
NM_014236.4(GNPAT):c.1305C>T (p.Val435=)
NM_014236.4(GNPAT):c.1937+9T>A

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