ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, kyphoscoliotic type 1 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (1):
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000302.4(PLOD1):c.564G>C (p.Leu188Phe) rs201888323 0.00106
NM_000302.4(PLOD1):c.579+17G>A rs181015965 0.00043
NM_000302.4(PLOD1):c.1427A>G (p.Lys476Arg) rs576907642 0.00025
NM_000302.4(PLOD1):c.1667A>G (p.Tyr556Cys) rs146360295 0.00016
NM_000302.4(PLOD1):c.109G>A (p.Glu37Lys) rs369263247 0.00004
NM_000302.4(PLOD1):c.805G>A (p.Val269Met) rs145447578 0.00004
NM_000302.4(PLOD1):c.307G>A (p.Asp103Asn) rs774590964 0.00003
NM_000302.4(PLOD1):c.1130A>C (p.Tyr377Ser) rs754748178 0.00001
NM_000302.4(PLOD1):c.2051G>A (p.Arg684His) rs772498138 0.00001
NM_000302.4(PLOD1):c.331C>T (p.Arg111Trp) rs772221158 0.00001
NM_000302.4(PLOD1):c.95C>T (p.Thr32Met) rs374597380 0.00001
NM_000302.4(PLOD1):c.-9_2del (p.Met1fs) rs747037908
NM_000302.4(PLOD1):c.1108C>T (p.Arg370Trp) rs763065699

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