ClinVar Miner

List of variants studied for autosomal recessive disease by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 80
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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_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
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_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145 0.00044
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val) rs111033303 0.00039
NM_017807.4(OSGEP):c.328T>C (p.Cys110Arg) rs140076803 0.00036
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_000277.3(PAH):c.1066-11G>A rs5030855 0.00028
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314 0.00019
NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe) rs111033199 0.00019
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr) rs139468767 0.00016
NM_000277.3(PAH):c.1042C>G (p.Leu348Val) rs62516092 0.00014
NM_000492.3(CFTR):c.3718-2477C>T rs75039782 0.00011
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg) rs61752334 0.00011
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 0.00010
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His) rs559088058 0.00006
NM_014425.5(INVS):c.1453del (p.Gln485fs) rs753348470 0.00006
NM_017807.4(OSGEP):c.838C>T (p.Arg280Cys) rs374322839 0.00005
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro) rs113994206 0.00004
NM_025216.3(WNT10A):c.391G>A (p.Ala131Thr) rs372993798 0.00004
NM_194248.3(OTOF):c.149G>A (p.Trp50Ter) rs202086317 0.00004
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser) rs774843953 0.00003
NM_017807.4(OSGEP):c.319G>A (p.Val107Met) rs140583554 0.00003
NM_000057.4(BLM):c.3439A>T (p.Lys1147Ter) rs770311534 0.00002
NM_000271.5(NPC1):c.3289G>A (p.Asp1097Asn) rs758829443 0.00002
NM_000426.4(LAMA2):c.6429+1G>T rs1262029350 0.00002
NM_002693.3(POLG):c.1808T>C (p.Met603Thr) rs367610201 0.00002
NM_016356.5(DCDC2):c.942del (p.Gly315fs) rs1554144869 0.00002
NM_033550.4(TP53RK):c.727C>T (p.Arg243Cys) rs553547069 0.00002
NM_206933.4(USH2A):c.5857+2T>C rs397518022 0.00002
NM_000083.3(CLCN1):c.1243G>C (p.Ala415Pro) rs1023099235 0.00001
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_001378615.1(CC2D2A):c.1558C>T (p.Arg520Ter) rs781252161 0.00001
NM_006618.5(KDM5B):c.895C>T (p.Arg299Ter) rs1558498928 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_018136.5(ASPM):c.9697C>T (p.Arg3233Ter) rs199422194 0.00001
NM_024649.5(BBS1):c.416G>A (p.Trp139Ter) rs878855095 0.00001
NM_198525.3(KIF7):c.1561-1G>A rs763238645 0.00001
NM_000019.4(ACAT1):c.730+2T>C rs398123096
NM_000092.5(COL4A4):c.4349_4366del (p.Ile1450_Pro1455del) rs2149745228
NM_000277.3(PAH):c.842C>A (p.Pro281His) rs5030851
NM_000441.2(SLC26A4):c.1226G>C (p.Arg409Pro) rs111033305
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_001040616.3(LINS1):c.431del (p.Leu144fs) rs764442764
NM_001136035.4(TRMT1):c.35del (p.Phe12fs)
NM_001195263.2(PDZD7):c.2089del (p.Ala697fs) rs1055318738
NM_001287.6(CLCN7):c.1077C>A (p.Asn359Lys) rs2142378398
NM_001367624.2(ZNF469):c.6444del (p.Gln2149fs) rs886044697
NM_001378615.1(CC2D2A):c.834del (p.Leu279fs) rs386833765
NM_001382391.1(CSPP1):c.2259_2260del (p.Glu755fs) rs587777139
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_003619.4(PRSS12):c.441_442del (p.Trp148fs) rs760638778
NM_004999.4(MYO6):c.2416+2T>C
NM_006019.4(TCIRG1):c.862_866delinsG (p.Leu288fs) rs1855343916
NM_006642.5(SDCCAG8):c.1853+2T>C
NM_006765.4(TUSC3):c.55_69delinsGC (p.Tyr19fs)
NM_014780.5(CUL7):c.3368_3369del (p.Arg1123fs)
NM_015311.3(OBSL1):c.2222C>G (p.Ser741Ter)
NM_017807.4(OSGEP):c.365G>T (p.Gly122Val) rs1166790792
NM_018136.5(ASPM):c.1823_1824del (p.Glu608fs)
NM_018255.4(ELP2):c.293dup (p.Leu98fs) rs529659464
NM_025114.4(CEP290):c.1189+1G>A rs2039659434
NM_025114.4(CEP290):c.4028del (p.Lys1343fs) rs1213286417
NM_033550.4(TP53RK):c.309dup (p.Val104fs) rs2122963096
NM_170707.4(LMNA):c.331G>A (p.Glu111Lys)
NM_203486.3(DLL3):c.1272dup (p.Asp425fs)
NM_203486.3(DLL3):c.1312T>A (p.Cys438Ser)

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