List of variants reported as likely pathogenic by Institute of Medical Genetics, Medical University of Vienna

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_004204.5(PIGQ):c.1370T>G (p.Leu457Arg)	rs201005406	0.00003
NM_000092.5(COL4A4):c.1181G>T (p.Gly394Val)	rs2475417678
NM_000112.4(SLC26A2):c.749A>T (p.Asp250Val)	rs2113697665
NM_000181.4(GUSB):c.1084_1110del (p.Asp362_Phe370del)	rs1791443181
NM_001009944.3(PKD1):c.3984G>C (p.Trp1328Cys)	rs2151799171
NM_004204.5(PIGQ):c.1092dup (p.Phe365fs)
NM_012330.4(KAT6B):c.3906del (p.Ser1303fs)	rs2134234910

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