List of variants studied for endocrine gland neoplasm by GenomeConnect - Invitae Patient Insights Network

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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)	rs142441643	0.00025
NM_020975.6(RET):c.2522C>T (p.Pro841Leu)	rs149891333	0.00015
NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln)	rs199844384	0.00009
NM_004168.4(SDHA):c.313-7T>C	rs201972549	0.00004
NM_020975.6(RET):c.1998G>T (p.Lys666Asn)	rs146646971	0.00003
NM_004168.4(SDHA):c.1652C>T (p.Thr551Met)	rs181238392	0.00002
NM_004168.4(SDHA):c.1679C>T (p.Thr560Met)	rs775350508	0.00002
NM_001370259.2(MEN1):c.1354C>T (p.Arg452Trp)	rs863224810	0.00001
NM_004168.4(SDHA):c.1099C>G (p.Gln367Glu)	rs780941330	0.00001
NM_020975.6(RET):c.2370G>T (p.Leu790Phe)	rs75030001	0.00001
NM_000388.4(CASR):c.209G>A (p.Trp70Ter)	rs2107627458
NM_000388.4(CASR):c.2278A>T (p.Ile760Phe)	rs1453953571
NM_000388.4(CASR):c.2990C>A (p.Ser997Tyr)	rs1244383237
NM_000388.4(CASR):c.494T>G (p.Val165Gly)	rs1559958757
NM_001370259.2(MEN1):c.1A>G (p.Met1Val)	rs386134250
NM_004168.4(SDHA):c.245_252del (p.Glu82fs)	rs1734890180
NM_004168.4(SDHA):c.456+3_456+4delinsCT	rs1734966566
NM_017849.4(TMEM127):c.117_120del (p.Ile41fs)	rs121908816
NM_020975.6(RET):c.1828A>C (p.Asn610His)	rs1837994023

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