ClinVar Miner

List of variants studied for endocrine gland neoplasm by MGZ Medical Genetics Center

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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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.2410G>A (p.Val804Met) rs79658334 0.00022
NM_003002.4(SDHD):c.53C>T (p.Ala18Val) rs192332761 0.00011
NM_020975.6(RET):c.1942G>A (p.Val648Ile) rs77711105 0.00007
NM_017849.4(TMEM127):c.121A>G (p.Ile41Val) rs760633411 0.00006
NM_001370259.2(MEN1):c.1169C>T (p.Pro390Leu) rs761102084 0.00001
NM_001370259.2(MEN1):c.1243C>T (p.Arg415Ter) rs1060499974 0.00001
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser) rs786201095 0.00001
NM_003000.3(SDHB):c.725G>A (p.Arg242His) rs74315368 0.00001
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr) rs80338845 0.00001
NM_020975.6(RET):c.2370G>T (p.Leu790Phe) rs75030001 0.00001
NM_000388.4(CASR):c.658C>T (p.Arg220Trp) rs1482119762
NM_001370259.2(MEN1):c.1388A>C (p.Glu463Ala)
NM_001370259.2(MEN1):c.1548dup (p.Lys517fs) rs761695866
NM_001370259.2(MEN1):c.503T>C (p.Leu168Pro) rs386134256
NM_001370259.2(MEN1):c.758C>T (p.Ser253Leu) rs386134259
NM_001370259.2(MEN1):c.912G>T (p.Lys304Asn) rs1592646211
NM_003000.3(SDHB):c.183T>G (p.Tyr61Ter) rs760169139
NM_003000.3(SDHB):c.286+1G>A rs786201063
NM_003000.3(SDHB):c.287-2A>G rs1064794270
NM_003000.3(SDHB):c.3G>A (p.Met1Ile) rs1131691061
NM_003000.3(SDHB):c.572G>A (p.Cys191Tyr) rs2077978456
NM_003002.4(SDHD):c.147dup (p.His50fs) rs876659130
NM_003002.4(SDHD):c.33C>A (p.Cys11Ter) rs104894309
NM_003002.4(SDHD):c.361C>T (p.Gln121Ter) rs878854594
NM_003002.4(SDHD):c.443del (p.Gly148fs) rs587776646
NM_004168.4(SDHA):c.1283_1298del (p.Gln428fs)
NM_017849.4(TMEM127):c.409+1G>T rs121908825
NM_020975.6(RET):c.1897_1899del (p.Leu633del)
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) rs75996173
NM_020975.6(RET):c.2370G>C (p.Leu790Phe) rs75030001
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_024529.5(CDC73):c.1195C>T (p.Arg399Ter) rs1677688362
NM_024529.5(CDC73):c.687_688del (p.Arg229fs) rs760591174

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