ClinVar Miner

List of variants studied for congenital nephrotic syndrome, Finnish type by Myriad Genetics, Inc.

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_004646.4(NPHS1):c.121_122del (p.Leu41fs) rs386833873 0.00089
NM_004646.4(NPHS1):c.14C>T (p.Thr5Met) rs191850409 0.00026
NM_004646.4(NPHS1):c.2335-1G>A rs150038620 0.00009
NM_004646.4(NPHS1):c.319G>A (p.Ala107Thr) rs386833933 0.00002
NM_004646.4(NPHS1):c.3325C>T (p.Arg1109Ter) rs137853042 0.00002
NM_004646.4(NPHS1):c.1555C>T (p.Pro519Ser) rs386833884 0.00001
NM_004646.4(NPHS1):c.1188_1189del (p.Ile397fs)
NM_004646.4(NPHS1):c.1414_1415delinsA (p.Pro472fs)
NM_004646.4(NPHS1):c.1454_1455del (p.Val485fs)
NM_004646.4(NPHS1):c.146T>G (p.Val49Gly) rs1973263497
NM_004646.4(NPHS1):c.163del (p.Val55fs)
NM_004646.4(NPHS1):c.181_182insTCTT (p.Ala61fs)
NM_004646.4(NPHS1):c.181_182insTT (p.Ala61fs)
NM_004646.4(NPHS1):c.187C>T (p.Gln63Ter)
NM_004646.4(NPHS1):c.1921_1922delinsT (p.Asn641fs)
NM_004646.4(NPHS1):c.1946del (p.Leu649fs)
NM_004646.4(NPHS1):c.2010_2011del (p.Ser671fs)
NM_004646.4(NPHS1):c.2114dup (p.His705fs)
NM_004646.4(NPHS1):c.2256_2257insAG (p.Val753fs)
NM_004646.4(NPHS1):c.233dup (p.Gly79fs)
NM_004646.4(NPHS1):c.2354_2355insTCGTCGTGCTGCT (p.Gln785fs)
NM_004646.4(NPHS1):c.2504_2505del (p.Arg835fs)
NM_004646.4(NPHS1):c.2624_2625del (p.Trp875fs)
NM_004646.4(NPHS1):c.295G>T (p.Glu99Ter)
NM_004646.4(NPHS1):c.3177dup (p.Leu1060fs)
NM_004646.4(NPHS1):c.3224_3228del (p.Leu1075fs)
NM_004646.4(NPHS1):c.3329_3330del (p.Val1110fs)
NM_004646.4(NPHS1):c.333C>A (p.Cys111Ter)
NM_004646.4(NPHS1):c.3352del (p.Gln1118fs)
NM_004646.4(NPHS1):c.3357G>A (p.Trp1119Ter)
NM_004646.4(NPHS1):c.33_34delinsTACACATCTG (p.Leu12fs)
NM_004646.4(NPHS1):c.3418C>T (p.Arg1140Cys) rs143092783
NM_004646.4(NPHS1):c.349_357delinsTATA (p.Glu117fs)
NM_004646.4(NPHS1):c.3544A>G (p.Thr1182Ala) rs537783084
NM_004646.4(NPHS1):c.398-1G>A rs386833942
NM_004646.4(NPHS1):c.424_425del (p.Pro142fs)
NM_004646.4(NPHS1):c.483_484del (p.Ser162fs)
NM_004646.4(NPHS1):c.508del (p.Asp170fs)
NM_004646.4(NPHS1):c.547_548insC (p.Ile183fs)
NM_004646.4(NPHS1):c.641T>A (p.Leu214Ter)
NM_004646.4(NPHS1):c.71T>A (p.Leu24Ter)
NM_004646.4(NPHS1):c.94del (p.Arg32fs)

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