ClinVar Miner

List of variants reported as likely pathogenic for Neurodevelopmental disorder with hypotonia, seizures, and absent language

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Total variants: 14
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HGVS dbSNP
NM_001348768.2(HECW2):c.2587T>C (p.Tyr863His)
NM_001348768.2(HECW2):c.3542C>G (p.Ala1181Gly)
NM_001348768.2(HECW2):c.3597C>A (p.Asn1199Lys)
NM_001348768.2(HECW2):c.3829T>C (p.Tyr1277His) rs1575255333
NM_001348768.2(HECW2):c.3980T>C (p.Phe1327Ser)
NM_001348768.2(HECW2):c.412A>G (p.Ile138Val)
NM_001348768.2(HECW2):c.4321T>C (p.Phe1441Leu) rs1575240506
NM_001348768.2(HECW2):c.4323T>G (p.Phe1441Leu)
NM_001348768.2(HECW2):c.4331G>C (p.Arg1444Thr)
NM_001348768.2(HECW2):c.4343T>G (p.Leu1448Trp) rs1575240464
NM_001348768.2(HECW2):c.4355G>T (p.Gly1452Val)
NM_001348768.2(HECW2):c.4471G>C (p.Glu1491Gln) rs1575235801
NM_001348768.2(HECW2):c.4507A>G (p.Thr1503Ala)
NM_001348768.2(HECW2):c.4511C>A (p.Ser1504Tyr)

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