ClinVar Miner

List of variants reported as uncertain significance for Leigh syndrome by Invitae

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_003172.4(SURF1):c.118A>T (p.Arg40Trp) rs781831910
NM_003172.4(SURF1):c.185T>G (p.Leu62Arg)
NM_003172.4(SURF1):c.324-10_324-9insAGA rs1299986010
NM_003172.4(SURF1):c.350A>C (p.Tyr117Ser) rs145615218
NM_003172.4(SURF1):c.736A>G (p.Ile246Val) rs782480169
NM_003172.4(SURF1):c.745A>G (p.Asn249Asp) rs587669420
NM_003172.4(SURF1):c.752-4dup rs1159512660
NM_003172.4(SURF1):c.808G>A (p.Glu270Lys) rs781924765
NM_003172.4(SURF1):c.809_826dup (p.Glu270_Ile275dup) rs782161777
NM_003172.4(SURF1):c.813_818dup (p.His271_Leu272dup) rs782488388
NM_003172.4(SURF1):c.823A>C (p.Ile275Leu)
NM_003172.4(SURF1):c.893C>G (p.Pro298Arg) rs201822068
NM_003172.4(SURF1):c.897del (p.Val300fs) rs782010013

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