List of variants reported as pathogenic for Senior-Loken syndrome 4

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_015102.5(NPHP4):c.2930C>T (p.Thr977Met)	rs569364202	0.00006
NM_015102.5(NPHP4):c.1889_1892del (p.Pro630fs)	rs1368105372	0.00005
NM_015102.5(NPHP4):c.1972C>T (p.Arg658Ter)	rs137852923	0.00003
NM_015102.5(NPHP4):c.3272del (p.Val1091fs)	rs1278089386	0.00002
NM_015102.5(NPHP4):c.2011C>T (p.Gln671Ter)	rs1025515771	0.00001
NM_015102.5(NPHP4):c.1271del (p.Lys424fs)	rs770306587
NM_015102.5(NPHP4):c.12G>A (p.Trp4Ter)	rs780905861
NM_015102.5(NPHP4):c.2029C>T (p.Pro677Ser)	rs547495754
NM_015102.5(NPHP4):c.2335C>T (p.Gln779Ter)	rs137852922
NM_015102.5(NPHP4):c.3644+1G>T	rs756111113
NM_015102.5(NPHP4):c.3773_3776del (p.Val1258fs)	rs776535691

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