ClinVar Miner

List of variants in gene KIRREL2, NPHS1 studied for abdominal and pelvic region disorder

Included ClinVar conditions (891):
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Gene type:
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Total variants: 12
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HGVS dbSNP
NM_004646.3(NPHS1):c.-170T>C rs401824
NM_004646.3(NPHS1):c.-31C>T rs376050812
NM_004646.3(NPHS1):c.-475_-468delGAGAGAGA rs139954720
NM_004646.3(NPHS1):c.-57G>T rs140404523
NM_004646.3(NPHS1):c.-61G>A rs75799457
NM_004646.3(NPHS1):c.-81C>G rs73928331
NM_004646.3(NPHS1):c.41T>C (p.Leu14Pro) rs1060499706
NM_004646.3(NPHS1):c.43G>C (p.Gly15Arg) rs73928330
NM_004646.3(NPHS1):c.45delG (p.Leu16Cysfs) rs1555764281
NM_004646.3(NPHS1):c.58+1G>A rs386833954
NM_004646.3(NPHS1):c.58+1G>T rs386833954
NM_004646.3(NPHS1):c.65C>T (p.Ala22Val) rs116617171

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