ClinVar Miner

List of variants reported as pathogenic for Luscan-Lumish syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_014159.7(SETD2):c.1289_1290del (p.Asp429_Ser430insTer) rs1575817869
NM_014159.7(SETD2):c.1748_1751del (p.Lys583fs) rs2043159037
NM_014159.7(SETD2):c.1771C>T (p.Gln591Ter)
NM_014159.7(SETD2):c.2028del (p.Pro677fs) rs869025572
NM_014159.7(SETD2):c.2749dup (p.Ser917fs)
NM_014159.7(SETD2):c.3671dup (p.Asn1224fs) rs2043056964
NM_014159.7(SETD2):c.4375C>T (p.Arg1459Ter) rs2107739635
NM_014159.7(SETD2):c.4792C>T (p.Arg1598Ter) rs2107696360
NM_014159.7(SETD2):c.4997A>G (p.Tyr1666Cys) rs1559720382
NM_014159.7(SETD2):c.5177del (p.Gly1726fs) rs2107651620
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp) rs1057523157
NM_014159.7(SETD2):c.5236G>T (p.Glu1746Ter) rs2107651058
NM_014159.7(SETD2):c.5444T>G (p.Leu1815Trp) rs869025570
NM_014159.7(SETD2):c.5635C>T (p.Arg1879Cys) rs1575744958
NM_014159.7(SETD2):c.5761G>T (p.Glu1921Ter) rs2041433287
NM_014159.7(SETD2):c.5945dup (p.Asp1982fs)
NM_014159.7(SETD2):c.6069T>A (p.Tyr2023Ter) rs2107600390
NM_014159.7(SETD2):c.6341del (p.Asn2114fs) rs869025569
NM_014159.7(SETD2):c.6712_6718del (p.Ser2238fs) rs2107575654
NM_014159.7(SETD2):c.6844_6845del (p.Val2282fs)
NM_014159.7(SETD2):c.820C>T (p.Gln274Ter) rs869025571

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