ClinVar Miner

List of variants reported as likely pathogenic for Syndromic neurodevelopmental disorder

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001792.5(CDH2):c.1057G>A (p.Asp353Asn) rs1599017933
NM_001792.5(CDH2):c.1789G>A (p.Asp597Asn) rs1599011050
NM_001792.5(CDH2):c.1880A>G (p.Asp627Gly) rs1599010918
NM_001792.5(CDH2):c.2027A>G (p.Tyr676Cys) rs199984052
NM_001792.5(CDH2):c.2563_2564del (p.Leu855fs) rs1598982488
NM_001792.5(CDH2):c.2564_2567dup (p.Leu856fs) rs1598982483
NM_020338.4(ZMIZ1):c.1386dup (p.Thr463fs) rs1589590917
NM_020338.4(ZMIZ1):c.2610C>T (p.Ser870=) rs1231805222
NM_020338.4(ZMIZ1):c.272A>G (p.Lys91Arg) rs1554817910
NM_020338.4(ZMIZ1):c.2758dup (p.Gln920fs) rs777843533
NM_020338.4(ZMIZ1):c.2835del (p.Met946fs) rs1854806983
NM_020338.4(ZMIZ1):c.3021del (p.Phe1008fs) rs1855124785
NM_020338.4(ZMIZ1):c.3097-2A>G rs1589627138
NM_020338.4(ZMIZ1):c.3112dup (p.Thr1038fs) rs1589627206
NM_020338.4(ZMIZ1):c.859G>A (p.Ala287Thr) rs1472883107
NM_020338.4(ZMIZ1):c.887C>A (p.Thr296Lys) rs1589579476
NM_020338.4(ZMIZ1):c.887C>T (p.Thr296Ile) rs1589579476
NM_020338.4(ZMIZ1):c.893C>T (p.Thr298Ile) rs1853549548
NM_020338.4(ZMIZ1):c.899C>T (p.Thr300Met) rs1589579500

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