List of variants in gene combination EVC2, LOC126806961 reported as likely pathogenic for Ellis-van Creveld syndrome

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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_147127.5(EVC2):c.1470+3A>T	rs370769794	0.00007
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter)	rs137852924	0.00003
NM_147127.5(EVC2):c.1386_1387del (p.Arg463fs)	rs772840335	0.00001
NM_147127.5(EVC2):c.1170_1171delinsC (p.Ala391fs)	rs1553840713
NM_147127.5(EVC2):c.1186G>T (p.Glu396Ter)	rs2108864342
NM_147127.5(EVC2):c.1261_1262insTATACACATCTGTGATC (p.Ser421fs)	rs2475438548
NM_147127.5(EVC2):c.1292_1296del (p.Val431fs)	rs2475438306
NM_147127.5(EVC2):c.1313T>A (p.Leu438Ter)	rs2475438200
NM_147127.5(EVC2):c.1313del (p.Leu438fs)	rs2475438203
NM_147127.5(EVC2):c.1463del (p.Gly488fs)	rs2475437004

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