List of variants reported as uncertain significance for autosomal recessive disease by Molecular Genetics, Royal Melbourne Hospital

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Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_015378.4(VPS13D):c.1342A>G (p.Thr448Ala)	rs146488112	0.00073
NM_014687.4(RUBCN):c.2075A>T (p.Glu692Val)	rs201343662	0.00060
NM_000260.4(MYO7A):c.2915G>A (p.Arg972Gln)	rs782426472	0.00009
NM_005529.7(HSPG2):c.9284A>G (p.Asn3095Ser)	rs765463910	0.00009
NM_000023.4(SGCA):c.307A>G (p.Ile103Val)	rs370819630	0.00003
NM_000092.5(COL4A4):c.2732C>G (p.Pro911Arg)	rs764465049	0.00002
NM_000271.5(NPC1):c.1001G>C (p.Cys334Ser)	rs199693280	0.00002
NM_001130987.2(DYSF):c.707G>A (p.Arg236Gln)	rs528386282	0.00002
NM_001267550.2(TTN):c.95434G>A (p.Gly31812Ser)	rs754416007	0.00002
NM_000092.5(COL4A4):c.4915G>C (p.Gly1639Arg)	rs749899964	0.00001
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser)	rs104895128	0.00001
NM_001013838.3(CARMIL2):c.926T>C (p.Leu309Pro)	rs758192470	0.00001
NM_015665.6(AAAS):c.721C>T (p.His241Tyr)	rs1944356188	0.00001
NM_015665.6(AAAS):c.847C>T (p.Pro283Ser)	rs1745022731	0.00001
NM_018294.6(CWF19L1):c.1063A>G (p.Lys355Glu)	rs1176487325	0.00001
NM_025132.4(WDR19):c.56T>G (p.Phe19Cys)	rs1247231925	0.00001
NM_201384.3(PLEC):c.12146C>T (p.Thr4049Met)	rs1277411906	0.00001
NM_000070.3(CAPN3):c.2440-75C>G	rs184526584
NM_000091.5(COL4A3):c.1759-11T>A	rs1433223189
NM_000092.5(COL4A4):c.3716G>T (p.Gly1239Val)	rs1394140383
NM_000271.5(NPC1):c.1289C>G (p.Pro430Arg)	rs2145455455
NM_001146079.2(CLDN14):c.664del (p.Ala222fs)	rs761918152
NM_014363.6(SACS):c.10901A>C (p.Gln3634Pro)	rs150900362
NM_015378.4(VPS13D):c.3190A>T (p.Thr1064Ser)	rs151332868
NM_017777.4(MKS1):c.858+1G>A	rs756102768
NM_018294.6(CWF19L1):c.1523G>A (p.Trp508Ter)	rs2134268636
NM_018972.4(GDAP1):c.653A>C (p.Gln218Pro)	rs556827873
NM_024649.5(BBS1):c.830+72A>G	rs2134785377
NM_194248.3(OTOF):c.4655C>T (p.Pro1552Leu)	rs2148027757

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