List of variants in gene EVC2 reported as pathogenic for not provided

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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: 15

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HGVS	dbSNP	gnomAD frequency
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter)	rs769864196	0.00005
NM_147127.5(EVC2):c.3659+2T>C	rs200300612	0.00003
NM_147127.5(EVC2):c.3660del (p.Ser1220fs)	rs753581033	0.00002
NM_147127.5(EVC2):c.2092C>T (p.Arg698Ter)	rs781623802	0.00001
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter)	rs751356206	0.00001
NM_147127.5(EVC2):c.2476C>T (p.Arg826Ter)	rs548681312	0.00001
NM_147127.5(EVC2):c.3361-2del	rs757914735	0.00001
GRCh37/hg19 4p16.2(chr4:5636439-5710337)x1
NM_147127.5(EVC2):c.2029C>T (p.Arg677Ter)	rs73198165
NM_147127.5(EVC2):c.2483G>A (p.Trp828Ter)	rs1715768907
NM_147127.5(EVC2):c.3091C>T (p.Gln1031Ter)	rs370438593
NM_147127.5(EVC2):c.3141G>A (p.Trp1047Ter)	rs886037764
NM_147127.5(EVC2):c.3405_3411del (p.Gly1136fs)	rs750396637
NM_147127.5(EVC2):c.3779del (p.Ala1260fs)	rs1577093203
NM_147127.5(EVC2):c.850del (p.Thr284fs)	rs886044525

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