ClinVar Miner

List of variants in gene NPHS1 reported as likely benign by Counsyl

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile) rs145125791 0.00598
NM_004646.4(NPHS1):c.2398C>T (p.Arg800Cys) rs114896482 0.00151
NM_004646.4(NPHS1):c.1339G>A (p.Glu447Lys) rs28939695 0.00067
NM_004646.4(NPHS1):c.2869G>C (p.Val957Leu) rs114849139 0.00044
NM_004646.4(NPHS1):c.2262G>A (p.Gly754=) rs267605438 0.00001
NM_004646.4(NPHS1):c.3418C>A (p.Arg1140Ser) rs143092783

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