ClinVar Miner

List of variants studied for LEOPARD syndrome 1 by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.526-8C>A rs184804143 0.00064
NM_002834.5(PTPN11):c.1224+15G>A rs373271861 0.00011
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_002834.5(PTPN11):c.1739A>G (p.Tyr580Cys) rs2038914051
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.5(PTPN11):c.643-6G>A rs780387568
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455

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