ClinVar Miner

List of variants in gene SETD2 reported as benign for Luscan-Lumish syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NM_014159.6(SETD2):c.2302G>C (p.Val768Leu) rs9311404
NM_014159.6(SETD2):c.2543C>T (p.Ala848Val) rs75248784
NM_014159.6(SETD2):c.2704G>C (p.Glu902Gln) rs58906143
NM_014159.6(SETD2):c.2783C>G (p.Thr928Arg) rs72895708
NM_014159.6(SETD2):c.3249A>C (p.Thr1083=) rs80241480
NM_014159.6(SETD2):c.3567C>T (p.Thr1189=) rs140803915
NM_014159.6(SETD2):c.4011A>G (p.Glu1337=) rs115927459
NM_014159.6(SETD2):c.4059C>T (p.Ser1353=) rs113560046
NM_014159.6(SETD2):c.4320A>T (p.Pro1440=) rs74485823
NM_014159.6(SETD2):c.475A>G (p.Thr159Ala) rs369333306
NM_014159.6(SETD2):c.4872T>A (p.Ser1624=) rs75763513
NM_014159.6(SETD2):c.5271C>T (p.Leu1757=) rs144825663
NM_014159.6(SETD2):c.557C>T (p.Pro186Leu) rs78759480
NM_014159.6(SETD2):c.578C>T (p.Pro193Leu) rs77310684
NM_014159.6(SETD2):c.5900G>A (p.Gly1967Asp) rs143991928
NM_014159.6(SETD2):c.6009G>A (p.Val2003=) rs148671940
NM_014159.6(SETD2):c.6173A>G (p.Asn2058Ser) rs116277395
NM_014159.6(SETD2):c.664C>A (p.Leu222Ile) rs192262279
NM_014159.6(SETD2):c.6686T>G (p.Val2229Gly) rs377066147
NM_014159.6(SETD2):c.7060A>G (p.Thr2354Ala) rs145377213
NM_014159.6(SETD2):c.7068T>C (p.Val2356=) rs200525700
NM_014159.6(SETD2):c.7284T>C (p.Asp2428=) rs201285612
NM_014159.6(SETD2):c.985C>A (p.Arg329=) rs372869995

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