List of variants reported as pathogenic for autosomal recessive disease by Centogene AG - the Rare Disease Company

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 95

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HGVS	dbSNP	gnomAD frequency
NM_000518.5(HBB):c.20A>T (p.Glu7Val)	rs334	0.01298
NM_016038.4(SBDS):c.258+2T>C	rs113993993	0.00323
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_000277.3(PAH):c.1208C>T (p.Ala403Val)	rs5030857	0.00057
NM_000277.3(PAH):c.1066-11G>A	rs5030855	0.00028
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)	rs5030851	0.00010
NM_000492.4(CFTR):c.1705T>G (p.Tyr569Asp)	rs397508276	0.00010
NM_000784.4(CYP27A1):c.1184+1G>A	rs587778777	0.00009
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)	rs78769542	0.00006
NM_017686.4(GDAP2):c.946C>T (p.Gln316Ter)	rs752352896	0.00006
NM_002693.3(POLG):c.911T>G (p.Leu304Arg)	rs121918044	0.00004
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu)	rs61753219	0.00003
NM_000492.4(CFTR):c.2758G>A (p.Val920Met)	rs373885282	0.00003
NM_153816.6(SNX14):c.1108G>T (p.Glu370Ter)	rs201128942	0.00003
NM_000271.5(NPC1):c.2777C>T (p.Ala926Val)	rs730880963	0.00002
NM_000543.5(SMPD1):c.847G>A (p.Ala283Thr)	rs752148586	0.00002
NM_001130987.2(DYSF):c.4076T>C (p.Leu1359Pro)	rs757917335	0.00002
NM_001171.6(ABCC6):c.2248-2_2248-1del	rs111113624	0.00002
NM_006907.4(PYCR1):c.540+1G>A	rs752297179	0.00002
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys)	rs104895080	0.00001
NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg)	rs750779804	0.00001
NM_020632.3(ATP6V0A4):c.2257C>T (p.Gln753Ter)	rs121908367	0.00001
NC_000002.12:g.110069919_110205214del
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser)	rs367543029
NM_000091.5(COL4A3):c.1006G>T (p.Gly336Cys)	rs1559873550
NM_000091.5(COL4A3):c.345del (p.Pro116fs)	rs749390823
NM_000092.5(COL4A4):c.4720C>T (p.Gln1574Ter)	rs2149720690
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)	rs28940580
NM_000271.4(NPC1):c.2134_2135del
NM_000271.4(NPC1):c.3249_3250del
NM_000271.5(NPC1):c.1084_1093del (p.Thr362fs)
NM_000271.5(NPC1):c.1097C>G (p.Ser366Ter)	rs1278305591
NM_000271.5(NPC1):c.1110_1113del (p.Val371fs)
NM_000271.5(NPC1):c.1180_1181dup (p.Phe395fs)
NM_000271.5(NPC1):c.1238dup (p.Leu414fs)
NM_000271.5(NPC1):c.1451del (p.Val484fs)
NM_000271.5(NPC1):c.1612_1619dup (p.Phe542fs)
NM_000271.5(NPC1):c.1628del (p.Pro543fs)	rs1555635957
NM_000271.5(NPC1):c.1654+1dup
NM_000271.5(NPC1):c.1747_1755delinsAT (p.Trp583fs)
NM_000271.5(NPC1):c.1757+1G>T
NM_000271.5(NPC1):c.1757+2T>G
NM_000271.5(NPC1):c.1757+2_1757+3del
NM_000271.5(NPC1):c.2077del (p.Leu693fs)
NM_000271.5(NPC1):c.2086del (p.Ala696fs)
NM_000271.5(NPC1):c.2130+1G>C
NM_000271.5(NPC1):c.2146C>T (p.Gln716Ter)
NM_000271.5(NPC1):c.2158_2162del (p.Leu720fs)
NM_000271.5(NPC1):c.2515-2A>G
NM_000271.5(NPC1):c.2604+2T>G
NM_000271.5(NPC1):c.2608T>A (p.Ser870Thr)	rs2058690179
NM_000271.5(NPC1):c.2612del (p.Tyr871fs)
NM_000271.5(NPC1):c.2647del (p.Leu883fs)
NM_000271.5(NPC1):c.2719del (p.Met907fs)
NM_000271.5(NPC1):c.2736_2751del (p.Met912fs)
NM_000271.5(NPC1):c.2782C>T (p.Gln928Ter)
NM_000271.5(NPC1):c.2908dup (p.Ser970fs)
NM_000271.5(NPC1):c.2978dup (p.Asp994fs)	rs775915490
NM_000271.5(NPC1):c.3003del (p.Met1001fs)
NM_000271.5(NPC1):c.3020C>T (p.Pro1007Leu)	rs764789542
NM_000271.5(NPC1):c.3032_3038delinsAGGTTTACTC (p.Cys1011_Lys1013delinsTer)
NM_000271.5(NPC1):c.3041+1G>T
NM_000271.5(NPC1):c.3096_3116delinsCAGGTCG (p.Arg1032fs)
NM_000271.5(NPC1):c.3245+1G>T
NM_000271.5(NPC1):c.3255T>A (p.Tyr1085Ter)	rs774602107
NM_000271.5(NPC1):c.3281del (p.Ile1094fs)
NM_000271.5(NPC1):c.3347del (p.Leu1116fs)
NM_000271.5(NPC1):c.3412_3413del (p.Met1138fs)
NM_000271.5(NPC1):c.3503G>A (p.Cys1168Tyr)	rs1555631998
NM_000271.5(NPC1):c.3559del (p.Ala1187fs)
NM_000271.5(NPC1):c.370dup (p.Thr124fs)
NM_000271.5(NPC1):c.428_429del (p.Glu143fs)
NM_000271.5(NPC1):c.692_693del (p.Val231fs)
NM_000271.5(NPC1):c.749_755del (p.Lys250fs)
NM_000271.5(NPC1):c.754del (p.Gln252fs)
NM_000271.5(NPC1):c.762del (p.Pro255fs)
NM_000271.5(NPC1):c.895del (p.Val299fs)
NM_000271.5(NPC1):c.924_927del (p.Asn308fs)
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)	rs61750415
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	rs113993960
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)	rs193922500
NM_000543.5(SMPD1):c.1382_1383del (p.His461fs)	rs748411156
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His)	rs120074117
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter)	rs398123478
NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro)	rs751269562
NM_001080510.5(METTL23):c.169_172del (p.His57fs)	rs587777644
NM_001127671.2(LIFR):c.756dup (p.Lys253Ter)	rs1745753552
NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del)	rs767004810
NM_004004.6(GJB2):c.235del (p.Leu79fs)	rs80338943
NM_017755.6(NSUN2):c.1020del (p.Gly341fs)	rs1579368865
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del)	rs387906299
NM_020632.3(ATP6V0A4):c.2140-61_2257+166del	rs1803996097
NM_033629.6(TREX1):c.144dup (p.Thr49fs)	rs748914604
NM_177400.3(NKX6-2):c.487C>G (p.Leu163Val)	rs1131692048

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