ClinVar Miner

List of variants reported as likely benign for Nephronophthisis 7

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_032575.3(GLIS2):c.*1203C>G rs116981725 0.03086
NM_032575.3(GLIS2):c.70C>A (p.Arg24=) rs34543395 0.00866
NM_032575.3(GLIS2):c.*874C>G rs147214646 0.00712
NM_032575.3(GLIS2):c.1476G>A (p.Thr492=) rs140403969 0.00608
NM_032575.3(GLIS2):c.1464G>A (p.Leu488=) rs149580171 0.00467
NM_032575.3(GLIS2):c.*399T>G rs189481658 0.00375
NM_032575.3(GLIS2):c.*23G>A rs146555568 0.00319
NM_032575.3(GLIS2):c.*796G>C rs111818339 0.00299
NM_032575.3(GLIS2):c.1011G>A (p.Pro337=) rs200814551 0.00156
NM_032575.3(GLIS2):c.477G>A (p.Ser159=) rs148123444 0.00096
NM_032575.3(GLIS2):c.1284G>A (p.Leu428=) rs202243000 0.00046
NM_032575.3(GLIS2):c.*54C>T rs368483996 0.00042
NM_032575.3(GLIS2):c.849C>T (p.His283=) rs200829928 0.00006
NM_032575.3(GLIS2):c.789C>T (p.Tyr263=) rs368686815 0.00005
NM_032575.3(GLIS2):c.627C>T (p.Cys209=) rs746571582 0.00003
NM_032575.3(GLIS2):c.1413C>G (p.Ser471Arg) rs201182025
NM_032575.3(GLIS2):c.234C>G (p.Leu78=) rs149312212

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