ClinVar Miner

List of variants in gene NPHS1 reported by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_004646.4(NPHS1):c.1799A>G (p.Lys600Arg) rs566516658 0.00014
NM_004646.4(NPHS1):c.3554C>T (p.Pro1185Leu) rs555255264 0.00003
NM_004646.4(NPHS1):c.2600G>A (p.Gly867Asp) rs753656470 0.00002
NM_004646.4(NPHS1):c.1099C>T (p.Arg367Cys) rs386833865 0.00001
NM_004646.4(NPHS1):c.2438C>T (p.Ala813Val) rs541575466 0.00001
NM_004646.4(NPHS1):c.3233C>A (p.Ala1078Asp) rs775829291 0.00001
NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter) rs267606919 0.00001
NM_004646.4(NPHS1):c.794G>C (p.Cys265Ser) rs748287435 0.00001
NM_004646.4(NPHS1):c.2404C>T (p.Arg802Trp) rs386833911
NM_004646.4(NPHS1):c.2459A>G (p.Asn820Ser) rs2146819740
NM_004646.4(NPHS1):c.3006_3012del (p.Gln1004fs) rs748819031
NM_004646.4(NPHS1):c.3027C>G (p.Tyr1009Ter) rs762184939
NM_004646.4(NPHS1):c.3108A>C (p.Pro1036=) rs2513765542
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs) rs386833935
NM_004646.4(NPHS1):c.3286G>A (p.Gly1096Ser) rs2146807926
NM_004646.4(NPHS1):c.795C>A (p.Cys265Ter) rs779099247

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