ClinVar Miner

List of variants studied for endocrine gland neoplasm by Genetics and Molecular Pathology, SA Pathology

Included ClinVar conditions (161):
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ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_020975.6(RET):c.3187+47T>C rs2075912 0.84041
NM_020975.6(RET):c.135A>G (p.Ala45=) rs1800858 0.79274
NM_020975.6(RET):c.1296A>G (p.Ala432=) rs1800860 0.74268
NM_020975.6(RET):c.867+48A>G rs2435352 0.37996
NM_020975.6(RET):c.73+53G>A rs12267460 0.37428
NM_020975.6(RET):c.337+9G>A rs2435351 0.20641
NM_020975.6(RET):c.2712C>G (p.Ser904=) rs1800863 0.17043
NM_020975.6(RET):c.2608-147C>T rs11238441 0.17019
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) rs1799939 0.16640
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_020975.6(RET):c.1531G>A (p.Glu511Lys) rs201553718 0.00018
NM_020975.6(RET):c.1699G>A (p.Asp567Asn) rs147219360 0.00014
NM_020975.6(RET):c.2556C>G (p.Ile852Met) rs377767426 0.00011
NM_001370259.2(MEN1):c.1354C>T (p.Arg452Trp) rs863224810 0.00001
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter) rs74315366 0.00001
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844 0.00001
NM_000388.4(CASR):c.205C>A (p.Arg69Ser)
NM_001370259.2(MEN1):c.1A>G (p.Met1Val) rs386134250
NM_001370259.2(MEN1):c.445+1G>T
NM_003000.3(SDHB):c.572G>A (p.Cys191Tyr) rs2077978456
NM_003001.5(SDHC):c.473T>C (p.Leu158Pro)
NM_003002.4(SDHD):c.64C>T (p.Arg22Ter) rs104894306
NM_004752.4(GCM2):c.1398G>C (p.Glu466Asp) rs537546612
NM_020975.6(RET):c.143C>T (p.Thr48Met) rs1427186016
NM_020975.6(RET):c.1921G>C (p.Ala641Pro) rs377767411
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.69C>G (p.Asp23Glu) rs1675465120

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