List of variants reported as pathogenic for Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Cowden syndrome 3 by Labcorp Genetics (formerly Invitae), Labcorp

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 95

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HGVS	dbSNP	gnomAD frequency
NM_003002.4(SDHD):c.1A>T (p.Met1Leu)	rs104894307	0.00001
NM_003002.4(SDHD):c.205G>A (p.Glu69Lys)	rs202198133	0.00001
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu)	rs80338844	0.00001
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr)	rs80338845	0.00001
NC_000011.10:g.(?_112086898)_(112094980_?)del
NC_000011.10:g.(?_112094795)_(112094970_?)del
NC_000011.9:g.(?_111171709)_(111958707_?)del
NC_000011.9:g.(?_111171709)_(111959745_?)del
NC_000011.9:g.(?_111956548)_(111967525_?)del
NC_000011.9:g.(?_111957632)_(111958717_?)del
NC_000011.9:g.(?_111957632)_(111965694_?)del
NC_000011.9:g.(?_111959581)_(111965694_?)del
NM_003002.4(SDHD):c.106C>T (p.Gln36Ter)	rs104894303
NM_003002.4(SDHD):c.10del (p.Leu4fs)
NM_003002.4(SDHD):c.10dup (p.Leu4fs)	rs878854589
NM_003002.4(SDHD):c.112C>T (p.Arg38Ter)	rs80338843
NM_003002.4(SDHD):c.113_116dup (p.Ile40fs)	rs1865654197
NM_003002.4(SDHD):c.124_127delinsATA (p.Glu42fs)	rs1865655347
NM_003002.4(SDHD):c.129G>A (p.Trp43Ter)	rs104894308
NM_003002.4(SDHD):c.132T>A (p.Cys44Ter)
NM_003002.4(SDHD):c.135_160del (p.Val46fs)	rs1592778958
NM_003002.4(SDHD):c.136_143del (p.Val46fs)
NM_003002.4(SDHD):c.139C>T (p.Gln47Ter)	rs1865655722
NM_003002.4(SDHD):c.13_14del (p.Trp5fs)	rs1566690018
NM_003002.4(SDHD):c.147dup (p.His50fs)	rs876659130
NM_003002.4(SDHD):c.14G>A (p.Trp5Ter)	rs104894310
NM_003002.4(SDHD):c.14_30del (p.Trp5fs)
NM_003002.4(SDHD):c.155C>A (p.Ser52Ter)	rs587782210
NM_003002.4(SDHD):c.15G>A (p.Trp5Ter)
NM_003002.4(SDHD):c.169+1G>A	rs2135267557
NM_003002.4(SDHD):c.169+1G>T	rs2135267557
NM_003002.4(SDHD):c.169+5G>T
NM_003002.4(SDHD):c.170-1G>T	rs1306475361
NM_003002.4(SDHD):c.170-2A>G
NM_003002.4(SDHD):c.173del (p.Gly58fs)	rs878854590
NM_003002.4(SDHD):c.18_21del (p.Leu7fs)	rs1555186662
NM_003002.4(SDHD):c.191_192del (p.Leu64fs)	rs387906358
NM_003002.4(SDHD):c.197G>A (p.Trp66Ter)
NM_003002.4(SDHD):c.198G>A (p.Trp66Ter)
NM_003002.4(SDHD):c.1A>G (p.Met1Val)	rs104894307
NM_003002.4(SDHD):c.204_205del (p.Ser68fs)	rs1865686266
NM_003002.4(SDHD):c.204dup (p.Glu69fs)
NM_003002.4(SDHD):c.205G>T (p.Glu69Ter)
NM_003002.4(SDHD):c.224del (p.Leu75fs)	rs2135269378
NM_003002.4(SDHD):c.239T>G (p.Leu80Arg)	rs1555187010
NM_003002.4(SDHD):c.241_262del (p.Pro81fs)
NM_003002.4(SDHD):c.242del (p.Pro81fs)	rs878854591
NM_003002.4(SDHD):c.264C>A (p.Cys88Ter)
NM_003002.4(SDHD):c.273_274dup (p.Asp92fs)
NM_003002.4(SDHD):c.281_282insAATA (p.Leu95fs)	rs2135269697
NM_003002.4(SDHD):c.283del (p.Leu95fs)	rs2135269692
NM_003002.4(SDHD):c.288del (p.Ala97fs)	rs2135269740
NM_003002.4(SDHD):c.298_301del (p.Thr100fs)	rs786203067
NM_003002.4(SDHD):c.2T>C (p.Met1Thr)
NM_003002.4(SDHD):c.305A>G (p.His102Arg)	rs104894302
NM_003002.4(SDHD):c.305A>T (p.His102Leu)	rs104894302
NM_003002.4(SDHD):c.314+1G>A	rs1555187083
NM_003002.4(SDHD):c.314+1G>T	rs1555187083
NM_003002.4(SDHD):c.314+5G>A	rs1566695035
NM_003002.4(SDHD):c.314G>A (p.Trp105Ter)	rs1131691065
NM_003002.4(SDHD):c.315-2A>T
NM_003002.4(SDHD):c.315G>A (p.Trp105Ter)	rs1060503769
NM_003002.4(SDHD):c.317G>A (p.Gly106Asp)	rs1555187574
NM_003002.4(SDHD):c.317G>T (p.Gly106Val)	rs1555187574
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg)	rs876658477
NM_003002.4(SDHD):c.325C>T (p.Gln109Ter)	rs1060503770
NM_003002.4(SDHD):c.326_327del (p.Gln109fs)	rs1592786159
NM_003002.4(SDHD):c.330_331insTTCTTTAGGGGCCTTCAGTAACAAGTT (p.Val111delinsPhePheArgGlyLeuGlnTer)
NM_003002.4(SDHD):c.336dup (p.Asp113Ter)	rs1555187583
NM_003002.4(SDHD):c.337_340del (p.Asp113fs)	rs587776648
NM_003002.4(SDHD):c.33C>A (p.Cys11Ter)	rs104894309
NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys)	rs104894304
NM_003002.4(SDHD):c.341_342del (p.Tyr114fs)
NM_003002.4(SDHD):c.342T>A (p.Tyr114Ter)	rs1050032491
NM_003002.4(SDHD):c.352del (p.Asp118fs)	rs1131691064
NM_003002.4(SDHD):c.352dup (p.Asp118fs)
NM_003002.4(SDHD):c.361C>T (p.Gln121Ter)	rs878854594
NM_003002.4(SDHD):c.381del (p.Leu128fs)	rs1555187601
NM_003002.4(SDHD):c.383_386dup (p.Leu129fs)	rs864321644
NM_003002.4(SDHD):c.388dup (p.Ala130fs)	rs1131691063
NM_003002.4(SDHD):c.394del (p.Ser132fs)	rs1060503773
NM_003002.4(SDHD):c.3G>A (p.Met1Ile)	rs80338842
NM_003002.4(SDHD):c.3G>C (p.Met1Ile)	rs80338842
NM_003002.4(SDHD):c.412G>A (p.Gly138Arg)	rs786203932
NM_003002.4(SDHD):c.49C>T (p.Arg17Ter)	rs1314133983
NM_003002.4(SDHD):c.52+1G>A	rs1592777386
NM_003002.4(SDHD):c.52+1G>T
NM_003002.4(SDHD):c.52+1_52+2delinsAA
NM_003002.4(SDHD):c.52+2T>C	rs587776644
NM_003002.4(SDHD):c.53dup (p.Leu19fs)	rs886041237
NM_003002.4(SDHD):c.57del (p.Leu20fs)	rs587776649
NM_003002.4(SDHD):c.64C>T (p.Arg22Ter)	rs104894306
NM_003002.4(SDHD):c.94_95del (p.Ala33fs)	rs397514034
NM_003002.4(SDHD):c.95C>A (p.Ser32Ter)	rs104894305
NM_003002.4(SDHD):c.95C>G (p.Ser32Ter)

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