ClinVar Miner

List of variants studied for autosomal recessive disease by Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_182961.4(SYNE1):c.23713G>A (p.Glu7905Lys) rs148997223 0.00138
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln) rs146251364 0.00063
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met) rs201988582 0.00054
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met) rs139469785 0.00024
NM_020247.5(COQ8A):c.1042C>T (p.Arg348Ter) rs771578775 0.00006
NM_000391.4(TPP1):c.225A>G (p.Gln75=) rs368709098 0.00004
NM_000414.4(HSD17B4):c.2116C>T (p.Gln706Ter) rs771510541 0.00001
NM_006946.4(SPTBN2):c.1843C>T (p.Arg615Trp) rs1207850001 0.00001
NM_018075.5(ANO10):c.289del (p.Thr96_Met97insTer) rs772345347 0.00001
NM_020247.5(COQ8A):c.589-3C>G rs1229054489 0.00001
NM_000370.3(TTPA):c.553-1G>T rs2129741848
NM_000414.4(HSD17B4):c.652G>T (p.Val218Leu) rs1749878115
NM_001005920.4(JMJD8):c.*1009T>C rs2151505130
NM_006796.3(AFG3L2):c.634dup (p.Val212fs) rs2143196334
NM_006946.4(SPTBN2):c.157+1G>A rs2135558909
NM_014363.6(SACS):c.2225G>C (p.Arg742Pro) rs2137645971
NM_014363.6(SACS):c.4430T>C (p.Ile1477Thr) rs2137627792
NM_015046.7(SETX):c.3242T>C (p.Phe1081Ser) rs1564542121
NM_015046.7(SETX):c.7292dup (p.Asn2431fs) rs2131115543
NM_018075.5(ANO10):c.1009T>G (p.Phe337Val) rs1227163239
NM_018075.5(ANO10):c.206T>A (p.Leu69Ter) rs2149481901
NM_020247.5(COQ8A):c.127del (p.Leu43fs) rs754586499
NM_020247.5(COQ8A):c.1376T>C (p.Leu459Pro) rs1433323183
NM_020247.5(COQ8A):c.1844G>A (p.Gly615Asp) rs752130338
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu) rs774072453
NM_182961.4(SYNE1):c.15049C>T (p.Gln5017Ter) rs1563088209
NM_182961.4(SYNE1):c.15434A>G (p.His5145Arg) rs2153952625
NM_182961.4(SYNE1):c.3130C>T (p.Arg1044Ter) rs757719808
NM_182961.4(SYNE1):c.4609C>T (p.Arg1537Ter) rs983431074
NM_182961.4(SYNE1):c.6724-1G>A rs2154157186
NM_182961.4(SYNE1):c.7085dup (p.Asn2362fs) rs2154147676
NM_182961.4(SYNE1):c.7911G>A (p.Trp2637Ter) rs2154133792

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