List of variants reported as uncertain significance for autosomal recessive disease by Zotz-Klimas Genetics Lab, MVZ Zotz Klimas

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Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg)	rs34911792	0.00573
NM_022772.4(EPS8L2):c.1584G>C (p.Trp528Cys)	rs184903112	0.00137
NM_016239.4(MYO15A):c.730G>A (p.Asp244Asn)	rs199899548	0.00032
NM_003937.3(KYNU):c.563G>A (p.Arg188Gln)	rs2304705	0.00023
NM_022168.4(IFIH1):c.2464C>T (p.Arg822Ter)	rs747926684	0.00005
NM_001130987.2(DYSF):c.5269A>C (p.Thr1757Pro)	rs746919714	0.00002
NM_080680.3(COL11A2):c.5A>G (p.Glu2Gly)	rs568840295	0.00002
NM_020964.3(EPG5):c.4988C>T (p.Pro1663Leu)	rs375606930	0.00001
NM_000083.3(CLCN1):c.1949G>A (p.Gly650Asp)
NM_000132.4(F8):c.1847A>G (p.Asn616Ser)
NM_000260.4(MYO7A):c.4688C>T (p.Ala1563Val)
NM_000260.4(MYO7A):c.5131C>G (p.Pro1711Ala)
NM_000302.4(PLOD1):c.704C>T (p.Thr235Ile)
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)	rs1800076
NM_001080510.5(METTL23):c.275CAC[1] (p.Pro93del)	rs773937309
NM_002160.4(TNC):c.2192A>C (p.Glu731Ala)
NM_005012.4(ROR1):c.1639C>T (p.Pro547Ser)	rs137874089
NM_005219.5(DIAPH1):c.2597C>A (p.Ser866Tyr)
NM_006618.5(KDM5B):c.1795G>T (p.Ala599Ser)
NM_006618.5(KDM5B):c.3085-4T>G
NM_018136.5(ASPM):c.7811A>G (p.Lys2604Arg)
NM_022772.4(EPS8L2):c.460C>T (p.His154Tyr)
NM_153700.2(STRC):c.2303_2313+1del	rs1021413948
NM_194248.3(OTOF):c.4033CAA[1] (p.Gln1346del)

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