ClinVar Miner

List of variants reported as pathogenic by Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades, CHU Paris - Hôpital Necker-Enfants Malades

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys) rs201408725 0.00006
NM_006567.5(FARS2):c.989G>A (p.Arg330His) rs863223957 0.00005
NM_006567.5(FARS2):c.1256G>A (p.Arg419His) rs202183509 0.00001
NM_024996.7(GFM1):c.100C>T (p.Arg34Ter) rs766234016 0.00001
NM_024996.7(GFM1):c.1922C>A (p.Ala641Glu) rs1390685552 0.00001
NM_024996.7(GFM1):c.958C>G (p.Pro320Ala) rs781397040 0.00001
NM_004975.4(KCNB1):c.1041C>G (p.Ser347Arg)
NM_004975.4(KCNB1):c.1045G>T (p.Val349Phe) rs1569017205
NM_004975.4(KCNB1):c.1105T>C (p.Trp369Arg) rs1569017174
NM_004975.4(KCNB1):c.1115C>T (p.Thr372Ile) rs1569017160
NM_004975.4(KCNB1):c.1130C>A (p.Thr377Asn) rs1569017148
NM_004975.4(KCNB1):c.1132G>C (p.Val378Leu) rs1569017143
NM_004975.4(KCNB1):c.1139A>G (p.Tyr380Cys) rs1569017123
NM_004975.4(KCNB1):c.1153C>A (p.Pro385Thr) rs1060499592
NM_004975.4(KCNB1):c.1201G>A (p.Gly401Arg) rs1569017045
NM_004975.4(KCNB1):c.1248C>A (p.Phe416Leu) rs1569017015
NM_004975.4(KCNB1):c.1747C>T (p.Arg583Ter) rs781663444
NM_004975.4(KCNB1):c.629C>G (p.Thr210Arg) rs1555889162
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met) rs1555889162
NM_004975.4(KCNB1):c.857del (p.Val286fs) rs1569017337
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys) rs1555889130
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys)
NM_004975.4(KCNB1):c.935G>A (p.Arg312His) rs1555889127
NM_004975.4(KCNB1):c.984C>G (p.Tyr328Ter) rs1179351306
NM_006567.5(FARS2):c.1113G>T (p.Leu371Phe) rs1204079767
NM_006567.5(FARS2):c.1269_1276dup (p.Ser426Ter) rs1561847309
NM_006567.5(FARS2):c.251A>C (p.His84Pro) rs1758844499
NM_024996.7(GFM1):c.1149_1160del (p.Ile384_Thr387del) rs1576745248
NM_024996.7(GFM1):c.1297_1300del (p.Asp433fs) rs866604517
NM_024996.7(GFM1):c.1404del (p.Gly469fs) rs779877297
NM_024996.7(GFM1):c.1546T>C (p.Cys516Arg) rs1576757241
NM_024996.7(GFM1):c.1571C>T (p.Ala524Val) rs143031224
NM_024996.7(GFM1):c.248A>T (p.Asp83Val) rs1576721522

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