List of variants reported as pathogenic for autosomal recessive disease by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

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Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile)	rs121908120	0.01450
NM_000518.5(HBB):c.20A>T (p.Glu7Val)	rs334	0.01298
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)	rs534542684	0.00347
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)	rs75184679	0.00141
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)	rs5030858	0.00092
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)	rs141976414	0.00080
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)	rs113994095	0.00068
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)	rs141138948	0.00048
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val)	rs111033303	0.00039
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)	rs75193786	0.00032
NM_000277.3(PAH):c.1066-11G>A	rs5030855	0.00028
NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe)	rs111033199	0.00019
NM_000277.3(PAH):c.1042C>G (p.Leu348Val)	rs62516092	0.00014
NM_000492.3(CFTR):c.3718-2477C>T	rs75039782	0.00011
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)	rs5030851	0.00010
NM_014425.5(INVS):c.1453del (p.Gln485fs)	rs753348470	0.00006
NM_000083.3(CLCN1):c.1478C>A (p.Ala493Glu)	rs770900468	0.00001
NM_000083.3(CLCN1):c.2364+2T>A	rs886041384	0.00001
NM_000271.5(NPC1):c.3570_3573dup (p.Ala1192fs)	rs750323164	0.00001
NM_000302.4(PLOD1):c.979C>T (p.Gln327Ter)	rs1224538282	0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)	rs267607048	0.00001
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)	rs111033256
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)	rs61750415
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	rs113993960
NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs)	rs397508189
NM_000492.4(CFTR):c.3368-2A>G	rs755416052
NM_001382391.1(CSPP1):c.2259_2260del (p.Glu755fs)	rs587777139
NM_002485.5(NBN):c.657_661del (p.Lys219fs)	rs587776650
NM_018136.5(ASPM):c.1823_1824del (p.Glu608fs)
NM_025114.4(CEP290):c.1189+1G>A	rs2039659434

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