ClinVar Miner

List of variants reported as pathogenic for Leigh syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_003172.4(SURF1):c.688C>T (p.Arg230Ter) rs782623477 0.00007
NM_003172.4(SURF1):c.240+1G>T rs781948238 0.00004
NM_003172.4(SURF1):c.574C>T (p.Arg192Trp) rs782190413 0.00004
NM_003172.4(SURF1):c.516-2A>G rs782682492 0.00002
NM_003172.4(SURF1):c.586C>T (p.Gln196Ter) rs147816470 0.00002
NM_003172.4(SURF1):c.269T>C (p.Leu90Pro) rs782024654 0.00001
NM_003172.4(SURF1):c.74G>A (p.Trp25Ter) rs1187982748 0.00001
NM_003172.4(SURF1):c.751C>T (p.Gln251Ter) rs121918657 0.00001
NM_003172.4(SURF1):c.752-1G>C rs1391748504 0.00001
NM_003172.4(SURF1):c.834G>A (p.Trp278Ter) rs782601312 0.00001
NC_000009.12:g.133352139CT[1]
NC_000009.12:g.133352606_133352609del
NC_000009.12:g.133354954_133354958del
NM_003172.4(SURF1):c.-11_13del (p.Met1_Ala5del) rs863224229
NM_003172.4(SURF1):c.109dup
NM_003172.4(SURF1):c.11_27dup (p.Gly10fs) rs1588693841
NM_003172.4(SURF1):c.159_199dup (p.Leu67fs)
NM_003172.4(SURF1):c.183_186del (p.Leu62fs) rs1433471292
NM_003172.4(SURF1):c.19_35del (p.Leu7fs) rs1836590086
NM_003172.4(SURF1):c.19_35dup (p.Ala13fs)
NM_003172.4(SURF1):c.1A>G (p.Met1Val)
NM_003172.4(SURF1):c.1A>T (p.Met1Leu)
NM_003172.4(SURF1):c.236G>A (p.Trp79Ter) rs1244071473
NM_003172.4(SURF1):c.240+1G>A
NM_003172.4(SURF1):c.266_271del (p.Asn89_Leu90del) rs2119085074
NM_003172.4(SURF1):c.273del (p.Ile91fs) rs2119085056
NM_003172.4(SURF1):c.281dup (p.Leu94fs) rs1588691786
NM_003172.4(SURF1):c.283dup (p.Glu95fs)
NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer) rs863224228
NM_003172.4(SURF1):c.324-11T>G rs375398247
NM_003172.4(SURF1):c.32_38dup (p.Leu16fs) rs1410388157
NM_003172.4(SURF1):c.361A>T (p.Lys121Ter)
NM_003172.4(SURF1):c.367_368del (p.Arg123fs) rs2119083553
NM_003172.4(SURF1):c.371G>A (p.Gly124Glu) rs28933402
NM_003172.4(SURF1):c.38_44del (p.Ala13fs)
NM_003172.4(SURF1):c.3G>A (p.Met1Ile)
NM_003172.4(SURF1):c.41_50dup (p.Arg18fs)
NM_003172.4(SURF1):c.470dup (p.Ser158fs)
NM_003172.4(SURF1):c.485_486del (p.Val162fs) rs2119083367
NM_003172.4(SURF1):c.515+1del
NM_003172.4(SURF1):c.527del (p.Leu176fs)
NM_003172.4(SURF1):c.532_535del (p.Asn178fs) rs1057517942
NM_003172.4(SURF1):c.533dup (p.Asn178fs)
NM_003172.4(SURF1):c.535dup (p.Arg179fs)
NM_003172.4(SURF1):c.552del (p.Lys185fs) rs782542152
NM_003172.4(SURF1):c.555_556del (p.Lys186fs) rs1363125797
NM_003172.4(SURF1):c.574_575insCTGC (p.Arg192fs) rs782289759
NM_003172.4(SURF1):c.577C>T (p.Gln193Ter) rs782420522
NM_003172.4(SURF1):c.579_580del (p.Lys194fs)
NM_003172.4(SURF1):c.579del (p.Gly195fs)
NM_003172.4(SURF1):c.581_582del (p.Lys194fs)
NM_003172.4(SURF1):c.588+1G>A rs1219762677
NM_003172.4(SURF1):c.588+1G>C
NM_003172.4(SURF1):c.589-1G>C
NM_003172.4(SURF1):c.58_59dup (p.Ala21fs) rs2119088472
NM_003172.4(SURF1):c.606_610dup (p.Ile204fs)
NM_003172.4(SURF1):c.631_632del (p.Glu211fs) rs1554768333
NM_003172.4(SURF1):c.632_642del (p.Glu211fs) rs781954439
NM_003172.4(SURF1):c.640C>T (p.Gln214Ter)
NM_003172.4(SURF1):c.65del (p.Ser22fs)
NM_003172.4(SURF1):c.681G>A (p.Trp227Ter) rs1057520688
NM_003172.4(SURF1):c.6_22dup (p.Gln8fs)
NM_003172.4(SURF1):c.751+1G>A
NM_003172.4(SURF1):c.751del (p.Gln251fs)
NM_003172.4(SURF1):c.754_755del rs782007828
NM_003172.4(SURF1):c.758_759del (p.Thr253fs) rs782349178
NM_003172.4(SURF1):c.764del (p.Pro255fs)
NM_003172.4(SURF1):c.769G>A (p.Gly257Arg)
NM_003172.4(SURF1):c.773_774del (p.Pro258fs)
NM_003172.4(SURF1):c.773_784del (p.Pro258_Gly261del) rs1333638410
NM_003172.4(SURF1):c.792_793del (p.Arg264fs) rs782490558
NM_003172.4(SURF1):c.795_804dup (p.Asn269fs)
NM_003172.4(SURF1):c.799_800del (p.Leu267fs) rs864309500
NM_003172.4(SURF1):c.804del (p.Asn269fs)
NM_003172.4(SURF1):c.808G>T (p.Glu270Ter)
NM_003172.4(SURF1):c.808_817dup (p.Gln273fs)
NM_003172.4(SURF1):c.815_825dup (p.Val276fs) rs1220688120
NM_003172.4(SURF1):c.817C>T (p.Gln273Ter)
NM_003172.4(SURF1):c.818_825dup (p.Val276fs)
NM_003172.4(SURF1):c.820_824dup (p.Val276fs)
NM_003172.4(SURF1):c.821A>G (p.Tyr274Cys)
NM_003172.4(SURF1):c.833+1G>A rs782609482
NM_003172.4(SURF1):c.833+1G>C rs782609482
NM_003172.4(SURF1):c.837T>G (p.Tyr279Ter)
NM_003172.4(SURF1):c.838_839dup (p.Leu281fs)
NM_003172.4(SURF1):c.845_846del (p.Ser282fs) rs782316919
NM_003172.4(SURF1):c.870del (p.Phe290fs)
NM_003172.4(SURF1):c.870dup (p.Lys291Ter) rs782061187

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