ClinVar Miner

List of variants in gene NPHS1 reported as likely benign for abdominal and pelvic region disorder

Included ClinVar conditions (1030):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_004646.3(NPHS1):c.*538G>A rs71354105
NM_004646.3(NPHS1):c.*706A>G rs80296922
NM_004646.3(NPHS1):c.1175T>C (p.Leu392Pro) rs34320609
NM_004646.3(NPHS1):c.1223G>A (p.Arg408Gln) rs33950747
NM_004646.3(NPHS1):c.1339G>A (p.Glu447Lys) rs28939695
NM_004646.3(NPHS1):c.1930+12G>A rs528950
NM_004646.3(NPHS1):c.2262G>A (p.Gly754=) rs267605438
NM_004646.3(NPHS1):c.2398C>T (p.Arg800Cys) rs114896482
NM_004646.3(NPHS1):c.2869G>C (p.Val957Leu) rs114849139
NM_004646.3(NPHS1):c.2971G>C (p.Val991Leu) rs34736717
NM_004646.3(NPHS1):c.3418C>A (p.Arg1140Ser) rs143092783
NM_004646.3(NPHS1):c.3595-9G>T rs77309273
NM_004646.3(NPHS1):c.397+15C>T rs78237760
NM_004646.3(NPHS1):c.563A>T (p.Asn188Ile) rs145125791
NM_004646.3(NPHS1):c.791C>G (p.Pro264Arg) rs34982899
NM_004646.3(NPHS1):c.840+6G>A rs369975773
NM_004646.3(NPHS1):c.881C>T (p.Thr294Ile) rs113825926
NM_004646.4(NPHS1):c.2405G>A (p.Arg802Gln)

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