ClinVar Miner

List of variants studied for parathyroid gland disorder by KCCC/NGS Laboratory, Kuwait Cancer Control Center

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001370259.2(MEN1):c.1254C>T (p.Asp418=) rs2071313 0.30843
NM_001370259.2(MEN1):c.435C>T (p.Ser145=) rs61736636 0.02784
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969 0.01309
NM_024529.5(CDC73):c.1185A>G (p.Gln395=) rs116358657 0.00511
NM_024529.5(CDC73):c.-95G>A rs143969598 0.00133
NM_024529.5(CDC73):c.-11G>A rs80356643 0.00056
NM_001370259.2(MEN1):c.18C>T (p.Ala6=) rs369348210 0.00039
NM_001370259.2(MEN1):c.762G>A (p.Leu254=) rs199909967 0.00018
NM_024529.5(CDC73):c.840G>A (p.Leu280=) rs10921320 0.00012
NM_001370259.2(MEN1):c.1638G>A (p.Pro546=) rs368783097 0.00010
NM_001370259.2(MEN1):c.1071C>T (p.Asp357=) rs371964966 0.00003
NM_001370259.2(MEN1):c.1392G>A (p.Ala464=) rs754445482 0.00001
NM_001370259.2(MEN1):c.303C>T (p.Val101=) rs1463347315 0.00001
NM_024529.5(CDC73):c.1011C>T (p.Ala337=) rs372567546 0.00001
NM_001370259.2(MEN1):c.1410G>A (p.Pro470=) rs1060503795
NM_001370259.2(MEN1):c.238del (p.Val80fs) rs2136188216
NM_024529.5(CDC73):c.1418-17C>G rs11583414
NM_024529.5(CDC73):c.237+28T>C rs4466634

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