List of variants in gene LOC129936665, SETD2 studied for Luscan-Lumish syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_014159.7(SETD2):c.19C>T (p.Gln7Ter)	rs541943893	0.00023
NM_014159.7(SETD2):c.29C>T (p.Pro10Leu)	rs773221585	0.00006
NM_014159.7(SETD2):c.71+10A>G	rs776271538	0.00003
NM_014159.7(SETD2):c.68C>G (p.Pro23Arg)	rs892374525	0.00001
NM_014159.7(SETD2):c.11_22dup (p.Gln7_Pro8insLeuGlnProGln)
NM_014159.7(SETD2):c.13C>T (p.Gln5Ter)
NM_014159.7(SETD2):c.14AGCCGC[3] (p.5QP[3])	rs779757186
NM_014159.7(SETD2):c.26C>T (p.Pro9Leu)	rs1553707534
NM_014159.7(SETD2):c.2T>A (p.Met1Lys)	rs1221828308
NM_014159.7(SETD2):c.33G>C (p.Lys11Asn)	rs1575863434
NM_014159.7(SETD2):c.39G>T (p.Gly13=)
NM_014159.7(SETD2):c.71+20C>A
NM_014159.7(SETD2):c.71+20C>T

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