ClinVar Miner

List of variants in gene EVC reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_153717.3(EVC):c.780G>A (p.Lys260=) rs41269555 0.00661
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547 0.00547
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456 0.00451
NM_153717.3(EVC):c.*1439C>T rs188270163 0.00310
NM_153717.3(EVC):c.939+9C>T rs201282320 0.00211
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) rs41269557 0.00201
NM_153717.3(EVC):c.1636A>G (p.Met546Val) rs112608085 0.00196
NM_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549 0.00194
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946 0.00188
NM_153717.3(EVC):c.934G>A (p.Asp312Asn) rs115275195 0.00176
NM_153717.3(EVC):c.89C>T (p.Pro30Leu) rs886044558 0.00121
NM_153717.3(EVC):c.2562-3C>T rs375960614 0.00084
NM_153717.3(EVC):c.442T>C (p.Leu148=) rs139931919 0.00022
NM_153717.3(EVC):c.105C>A (p.Gly35=) rs745558003 0.00015
NM_153717.3(EVC):c.759A>G (p.Ser253=) rs201105095 0.00009
NM_153717.3(EVC):c.1564-6C>T rs188245524 0.00008
NM_153717.3(EVC):c.549C>T (p.Ser183=) rs201071908 0.00005
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter) rs121908425 0.00003
NM_153717.3(EVC):c.175-2A>G rs767186464 0.00003
NM_153717.3(EVC):c.175-9G>A rs753317536 0.00001
NM_153717.3(EVC):c.1777-2A>G rs909612975 0.00001
NM_153717.3(EVC):c.1957G>A (p.Gly653Ser) rs762716384 0.00001
NM_153717.3(EVC):c.2114A>G (p.Glu705Gly) rs765248751 0.00001
NM_153717.3(EVC):c.2520G>A (p.Thr840=) rs187406722 0.00001
NM_153717.3(EVC):c.364C>T (p.Pro122Ser) rs1407007311 0.00001
NM_153717.3(EVC):c.933C>T (p.Ile311=) rs759718572 0.00001
GRCh37/hg19 4p16.2(chr4:5731034-5772656)x1
NM_153717.3(EVC):c.1388C>G (p.Thr463Arg) rs1473605830
NM_153717.3(EVC):c.1390C>G (p.Leu464Val) rs986329571
NM_153717.3(EVC):c.1595A>G (p.Gln532Arg) rs2476466696
NM_153717.3(EVC):c.1979C>T (p.Thr660Met) rs550100215
NM_153717.3(EVC):c.2580G>C (p.Lys860Asn) rs1264987350
NM_153717.3(EVC):c.2601A>G (p.Pro867=)
NM_153717.3(EVC):c.384+5G>C rs1553865348
NM_153717.3(EVC):c.758C>G (p.Ser253Ter) rs762795511

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