ClinVar Miner

List of variants reported as likely pathogenic by Kids Research, The Children's Hospital at Westmead

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg) rs375032130 0.00009
NM_004092.4(ECHS1):c.538A>G (p.Thr180Ala) rs557128093 0.00004
NM_015340.4(LARS2):c.308G>A (p.Arg103His) rs757204777 0.00004
NM_015909.4(NBAS):c.2423+404G>C rs1019313682 0.00004
NM_015909.4(NBAS):c.2617C>T (p.Arg873Trp) rs897487519 0.00003
NM_015713.5(RRM2B):c.118C>T (p.Arg40Cys) rs776184830 0.00002
NM_001303.4(COX10):c.982G>A (p.Ala328Thr) rs777911169 0.00001
NC_000008.10:g.11667760_11787743del119984
NC_012920.1(MT-TS1):m.7453G>A rs2068703521
NM_000151.4(G6PC1):c.1051C>T (p.Gln351Ter) rs766448695
NM_001135146.2(SLC39A8):c.338G>C (p.Cys113Ser) rs1444255127
NM_001287742.2(FDFT1):c.-75+131_-75+146del rs1563290033
NM_001366521.1(ATP2B1):c.2938G>T (p.Val980Leu) rs370810713
NM_001366521.1(ATP2B1):c.3060+2T>G rs2135942244
NM_004462.5(FDFT1):c.880-24_880-23delinsAG rs1563339323
NM_014049.5(ACAD9):c.632A>G (p.Lys211Arg) rs1257611357
NM_014049.5(ACAD9):c.842C>T (p.Pro281Leu) rs1935731505
NM_015340.4(LARS2):c.1313A>G (p.Asp438Gly) rs1575289366
NM_015340.4(LARS2):c.1607C>T (p.Pro536Leu) rs1575292827
NM_015340.4(LARS2):c.2099C>T (p.Thr700Ile) rs1575308774
NM_015340.4(LARS2):c.388G>A (p.Ala130Thr) rs1575240334
NM_015340.4(LARS2):c.440A>C (p.Gln147Pro) rs536853368
NM_015340.4(LARS2):c.683G>A (p.Arg228His) rs770440975
NM_016120.4(RLIM):c.1262A>G (p.Tyr421Cys) rs2079618652
NM_020964.3(EPG5):c.6049+5G>A rs2048968935
NM_021095.4(SLC5A6):c.1285A>G (p.Ser429Gly) rs2147992303
NM_021095.4(SLC5A6):c.393+2T>C
NM_024996.7(GFM1):c.952C>T (p.Pro318Ser) rs1722463582
NM_139058.3(ARX):c.1607G>C (p.Arg536Thr) rs2048669411

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