List of variants reported as pathogenic by Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_004646.4(NPHS1):c.121_122del (p.Leu41fs)	rs386833873	0.00089
NM_001003722.2(GLE1):c.433-10A>G	rs386833693	0.00082
NM_000112.4(SLC26A2):c.-26+2T>C	rs386833492	0.00055
NM_004260.4(RECQL4):c.1390+2del	rs386833843	0.00043
NM_000390.4(CHM):c.1609+2dup	rs386833676	0.00001
NG_011545.1(CSTB):g.4900_4935CCCCGCCCCGCG[30_125]
NM_000111.3(SLC26A3):c.951_953del (p.Val318del)	rs386833491
NM_000170.3(GLDC):c.2281G>C (p.Gly761Arg)	rs386833549
NM_006493.4(CLN5):c.1028_1029del (p.Thr342_Tyr343insTer)	rs386833969
NM_015294.6(TRIM37):c.2212del (p.Glu738fs)	rs386833416
NM_017739.4(POMGNT1):c.1539+1G>T	rs138642840
NM_017777.4(MKS1):c.1408-34_1408-6del	rs386834043

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