ClinVar Miner

List of variants reported as likely pathogenic by New Leaf Center

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_003773.5(HYAL2):c.190G>A (p.Ala64Thr) rs782642246 0.00001
NM_003773.5(HYAL2):c.749C>T (p.Pro250Leu) rs781999115 0.00001
NM_003773.5(HYAL2):c.883C>T (p.Arg295Ter) rs782682203 0.00001
NM_020843.4(SCAPER):c.2377C>T (p.Gln793Ter) rs1239725461 0.00001
NM_001273.5(CHD4):c.2366A>T (p.Asn789Ile) rs1948436363
NM_003773.5(HYAL2):c.1132C>T (p.Arg378Cys) rs1553715895
NM_003773.5(HYAL2):c.611G>C (p.Gly204Ala) rs2109324707
NM_003773.5(HYAL2):c.713T>G (p.Leu238Arg) rs2109324483
NM_015466.4(PTPN23):c.4719_4720delinsA (p.Ser1574fs) rs2107730191
NM_018365.4(MNS1):c.407_410del (p.Glu136fs) rs1596264554
NM_020843.4(SCAPER):c.1116del (p.Val373fs) rs1598632432
NM_020843.4(SCAPER):c.1495+1G>A rs1598598205
NM_020843.4(SCAPER):c.2166-3C>G rs1598279469
NM_020843.4(SCAPER):c.2179C>T (p.Arg727Ter) rs978336151
NM_020843.4(SCAPER):c.2236dup (p.Ile746fs) rs1462082548
NM_020843.4(SCAPER):c.3224del (p.Pro1075fs) rs1596596355
NM_020843.4(SCAPER):c.3707_3708del (p.Ser1236fs) rs1303625185
NM_020843.4(SCAPER):c.829C>T (p.Arg277Ter) rs1484749107

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