ClinVar Miner

List of variants reported as pathogenic for Luscan-Lumish syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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NM_014159.6(SETD2):c.19C>T (p.Gln7Ter) rs541943893
NM_014159.6(SETD2):c.2028del (p.Pro677fs) rs869025572
NM_014159.6(SETD2):c.4997A>G (p.Tyr1666Cys) rs1559720382
NM_014159.6(SETD2):c.5218C>T (p.Arg1740Trp) rs1057523157
NM_014159.6(SETD2):c.5444T>G (p.Leu1815Trp) rs869025570
NM_014159.6(SETD2):c.6341del (p.Asn2114fs) rs869025569
NM_014159.6(SETD2):c.820C>T (p.Gln274Ter) rs869025571

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