List of variants reported as likely pathogenic for Carney-Stratakis syndrome

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_003002.4(SDHD):c.53-1G>T	rs1291507545	0.00001
NM_003002.4(SDHD):c.148C>G (p.His50Asp)	rs779249550
NM_003002.4(SDHD):c.275A>T (p.Asp92Val)	rs786205436
NM_003002.4(SDHD):c.304C>A (p.His102Asn)	rs786202403
NM_003002.4(SDHD):c.304C>T (p.His102Tyr)	rs786202403
NM_003002.4(SDHD):c.305A>C (p.His102Pro)	rs104894302
NM_003002.4(SDHD):c.315-1G>A	rs1555187566
NM_003002.4(SDHD):c.340T>C (p.Tyr114His)	rs876659276
NM_003002.4(SDHD):c.412G>A (p.Gly138Arg)	rs786203932
NM_003002.4(SDHD):c.413G>A (p.Gly138Glu)	rs1401695686
NM_003002.4(SDHD):c.413G>T (p.Gly138Val)	rs1401695686
NM_003002.4(SDHD):c.416T>G (p.Leu139Arg)	rs80338847
NM_003002.4(SDHD):c.44_52+24del	rs1865621296
NM_003002.4(SDHD):c.52+1_52+2delinsAA
NM_003002.4(SDHD):c.53-1_53delinsTT	rs1566691921
NM_003002.4(SDHD):c.53-2A>C

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