ClinVar Miner

List of variants studied for Paroxysmal nocturnal hemoglobinuria 1

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_002641.4(PIGA):c.849-19C>T rs780237513 0.00002
NM_002641.4(PIGA):c.109A>G (p.Met37Val) rs2147724073
NM_002641.4(PIGA):c.1139del (p.Ile380fs)
NM_002641.4(PIGA):c.1188+1G>C
NM_002641.4(PIGA):c.1281_1282del (p.Phe428fs)
NM_002641.4(PIGA):c.142G>A (p.Gly48Ser)
NM_002641.4(PIGA):c.145G>A (p.Val49Met) rs1569180100
NM_002641.4(PIGA):c.151_187del (p.Ser51fs)
NM_002641.4(PIGA):c.167T>C (p.Leu56Pro)
NM_002641.4(PIGA):c.196_206del (p.Lys66fs)
NM_002641.4(PIGA):c.329dup (p.Pro111fs)
NM_002641.4(PIGA):c.350T>C (p.Phe117Ser) rs2147723760
NM_002641.4(PIGA):c.986T>C (p.Val329Ala) rs1921924356
NM_015937.6(PIGT):c.602T>C (p.Leu201Pro) rs1555876854
NR_001566.1(TERC):n.-100C>G rs199422256

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