ClinVar Miner

List of variants reported as likely pathogenic for acrofacial dysostosis, Weyers type by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter) rs767072839 0.00006
NM_147127.5(EVC2):c.229-2A>G rs769799880 0.00004
NM_147127.5(EVC2):c.264C>A (p.Cys88Ter) rs965707319 0.00003
NM_147127.5(EVC2):c.3659+2T>C rs200300612 0.00003
NM_153717.3(EVC):c.1668C>G (p.Tyr556Ter) rs765269619 0.00003
NM_153717.3(EVC):c.175-2A>G rs767186464 0.00003
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter) rs767400887 0.00003
NM_147127.5(EVC2):c.1896C>A (p.Tyr632Ter) rs779707723 0.00002
NM_153717.3(EVC):c.2782+1G>T rs1007534611 0.00002
NM_147127.5(EVC2):c.1949_1963del (p.Phe650_Lys655delinsTer) rs1431987950 0.00001
NM_147127.5(EVC2):c.229-1G>T rs1214848359 0.00001
NM_147127.5(EVC2):c.706+2T>C rs1360260333 0.00001
NM_147127.5(EVC2):c.745C>T (p.Gln249Ter) rs1236566474 0.00001
NM_147127.5(EVC2):c.893del (p.His298fs) rs777505711 0.00001
NM_153717.3(EVC):c.175-9G>A rs753317536 0.00001
NM_153717.3(EVC):c.1777-1G>A rs1262933856 0.00001
NM_153717.3(EVC):c.1777-2A>G rs909612975 0.00001
NM_153717.3(EVC):c.2236C>T (p.Gln746Ter) rs1446547358 0.00001
NM_153717.3(EVC):c.617G>A (p.Ser206Asn) rs1017946059 0.00001
NM_153717.3(EVC):c.928C>G (p.Leu310Val) rs145300726 0.00001
NM_147127.5(EVC2):c.105_126dup (p.Gly43fs) rs1553855127
NM_147127.5(EVC2):c.1145+2T>G
NM_147127.5(EVC2):c.117G>A (p.Trp39Ter) rs2151750059
NM_147127.5(EVC2):c.1245del (p.Ser416fs)
NM_147127.5(EVC2):c.1255dup (p.His419fs)
NM_147127.5(EVC2):c.133C>T (p.Gln45Ter) rs1477102573
NM_147127.5(EVC2):c.1341C>G (p.Tyr447Ter)
NM_147127.5(EVC2):c.1522G>T (p.Glu508Ter)
NM_147127.5(EVC2):c.1595del (p.Phe532fs)
NM_147127.5(EVC2):c.1967T>A (p.Leu656Ter) rs1367694162
NM_147127.5(EVC2):c.199_208del (p.Ser67fs) rs1420414097
NM_147127.5(EVC2):c.2019dup (p.Lys674Ter) rs2108843158
NM_147127.5(EVC2):c.2041C>T (p.Gln681Ter)
NM_147127.5(EVC2):c.2047-2A>G rs1553833239
NM_147127.5(EVC2):c.228+2T>G
NM_147127.5(EVC2):c.2320C>T (p.Gln774Ter)
NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter) rs1577170055
NM_147127.5(EVC2):c.2409_2419del (p.Gln804fs)
NM_147127.5(EVC2):c.2501+2T>G
NM_147127.5(EVC2):c.2707-2A>G
NM_147127.5(EVC2):c.2881G>T (p.Gly961Ter)
NM_147127.5(EVC2):c.2893C>T (p.Gln965Ter)
NM_147127.5(EVC2):c.2945dup (p.Ser983fs)
NM_147127.5(EVC2):c.2958del (p.Ala987fs)
NM_147127.5(EVC2):c.2974C>T (p.Gln992Ter)
NM_147127.5(EVC2):c.2989G>T (p.Glu997Ter)
NM_147127.5(EVC2):c.3080_3107del (p.Lys1027fs) rs1391194715
NM_147127.5(EVC2):c.30dup (p.Thr11fs) rs1442303442
NM_147127.5(EVC2):c.3239del (p.Lys1080fs) rs1291275281
NM_147127.5(EVC2):c.3286C>T (p.Gln1096Ter)
NM_147127.5(EVC2):c.35G>A (p.Trp12Ter)
NM_147127.5(EVC2):c.386del (p.Ala129fs)
NM_147127.5(EVC2):c.3G>C (p.Met1Ile)
NM_147127.5(EVC2):c.451-1_452del rs1721107398
NM_147127.5(EVC2):c.451-2A>G rs1553851870
NM_147127.5(EVC2):c.469G>T (p.Glu157Ter)
NM_147127.5(EVC2):c.558G>A (p.Trp186Ter)
NM_147127.5(EVC2):c.816+1G>T rs1355905411
NM_147127.5(EVC2):c.817-2A>G rs1553849894
NM_147127.5(EVC2):c.821_824del (p.Arg274fs) rs1368193719
NM_147127.5(EVC2):c.870+2T>C
NM_153717.3(EVC):c.-16_20del (p.Met1_Ala7del) rs1445771901
NM_153717.3(EVC):c.-31_15dup (p.Ala6fs)
NM_153717.3(EVC):c.1084del (p.Glu362fs)
NM_153717.3(EVC):c.1316-7A>G
NM_153717.3(EVC):c.1652dup (p.Glu552fs)
NM_153717.3(EVC):c.1662_1663del (p.Cys554_Asp555delinsTer)
NM_153717.3(EVC):c.1858_1878del (p.Leu620_Leu626del)
NM_153717.3(EVC):c.1887-5_1904del rs779275317
NM_153717.3(EVC):c.1981C>T (p.Gln661Ter)
NM_153717.3(EVC):c.2143_2144del (p.Gln715fs)
NM_153717.3(EVC):c.220C>T (p.Gln74Ter)
NM_153717.3(EVC):c.2304+2T>C rs1553892090
NM_153717.3(EVC):c.2449+1G>A rs1553893423
NM_153717.3(EVC):c.2545C>T (p.Gln849Ter) rs561852174
NM_153717.3(EVC):c.2695G>T (p.Glu899Ter)
NM_153717.3(EVC):c.2889dup (p.Leu964fs)
NM_153717.3(EVC):c.384+1G>T
NM_153717.3(EVC):c.585_586insT (p.Asn196Ter)
NM_153717.3(EVC):c.618-1G>A
NM_153717.3(EVC):c.901AAG[1] (p.Lys302del) rs755381180
NM_153717.3(EVC):c.90_91insT (p.Ala31fs)

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