ClinVar Miner

List of variants reported as pathogenic for Finnish congenital nephrotic syndrome by Counsyl

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Total variants: 13
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HGVS dbSNP
NM_004646.3(NPHS1):c.121_122del (p.Leu41fs) rs386833873
NM_004646.3(NPHS1):c.1758-8_1785del rs386833891
NM_004646.3(NPHS1):c.2515del (p.Gln839fs) rs386833918
NM_004646.3(NPHS1):c.2536_2539CTAA[1] (p.Thr847fs) rs1244884053
NM_004646.3(NPHS1):c.3027C>G (p.Tyr1009Ter) rs762184939
NM_004646.3(NPHS1):c.3250del (p.Val1084fs) rs386833935
NM_004646.3(NPHS1):c.3250dup (p.Val1084fs) rs386833935
NM_004646.3(NPHS1):c.3325C>T (p.Arg1109Ter) rs137853042
NM_004646.3(NPHS1):c.3478C>T (p.Arg1160Ter) rs267606919
NM_004646.3(NPHS1):c.468C>G (p.Tyr156Ter) rs386833943
NM_004646.3(NPHS1):c.532C>T (p.Gln178Ter) rs386833951
NM_004646.3(NPHS1):c.609-2A>C rs386833955
NM_004646.3(NPHS1):c.736G>T (p.Glu246Ter) rs386833959

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