ClinVar Miner

List of variants reported as benign for LEOPARD syndrome 1

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.-273G>A rs58805176 0.10884
NM_002834.5(PTPN11):c.1093-9C>A rs12301915 0.04151
NM_002834.5(PTPN11):c.255C>T (p.His85=) rs61736914 0.02271
NM_002834.5(PTPN11):c.*670G>A rs112287134 0.01588
NM_002834.5(PTPN11):c.*801C>T rs138246203 0.01271
NM_002834.5(PTPN11):c.525+12G>C rs41304351 0.01035
NM_002834.5(PTPN11):c.*1374G>C rs139266170 0.00836
NM_002834.5(PTPN11):c.*2927T>A rs190612693 0.00828
NM_002834.5(PTPN11):c.*3043C>T rs41307084 0.00647
NM_002834.5(PTPN11):c.*3006G>A rs141870860 0.00646
NM_002834.5(PTPN11):c.*325G>A rs192080780 0.00304
NM_002834.5(PTPN11):c.*775G>A rs181946923 0.00230
NM_002834.5(PTPN11):c.*2078G>A rs144513512 0.00193
NM_002834.5(PTPN11):c.526-8C>A rs184804143 0.00064
NM_002834.5(PTPN11):c.*838G>A rs142648640 0.00035
NM_002834.5(PTPN11):c.*1805C>T rs188162577 0.00033
NM_002834.5(PTPN11):c.48A>G (p.Ala16=) rs372736227 0.00029
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val) rs201787206 0.00026
NM_002834.5(PTPN11):c.1224+15G>A rs373271861 0.00011
NM_002834.5(PTPN11):c.558G>T (p.Arg186=) rs200920312 0.00011
NM_002834.3(PTPN11):c.-287G>C rs377496292 0.00009
NM_002834.5(PTPN11):c.*3381A>G rs374962107 0.00003
NM_002834.5(PTPN11):c.824A>C (p.Asn275Thr) rs397507528 0.00003
NM_002834.5(PTPN11):c.*329T>C rs576039073 0.00001
NM_002834.5(PTPN11):c.1650G>A (p.Ala550=) rs374896287 0.00001
NM_002834.5(PTPN11):c.951G>A (p.Lys317=) rs576405446 0.00001
NM_002834.5(PTPN11):c.*1536T>C rs371375321
NM_002834.5(PTPN11):c.*2629A>G rs141655134
NM_002834.5(PTPN11):c.1221A>G (p.Gly407=) rs532529560
NM_002834.5(PTPN11):c.53A>G (p.Asn18Ser) rs587778635

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