ClinVar Miner

List of variants studied for neuronal ceroid lipofuscinosis by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (26):
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ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768 0.01081
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746 0.00889
NM_022089.4(ATP13A2):c.*130C>T rs189334432 0.00217
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr) rs143578698 0.00169
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp) rs138976576 0.00133
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser) rs142269885 0.00083
NM_018941.4(CLN8):c.779C>T (p.Pro260Leu) rs146579299 0.00068
NM_000391.4(TPP1):c.1241A>T (p.Asn414Ile) rs146798796 0.00051
NM_022089.4(ATP13A2):c.3405+9C>T rs374766933 0.00051
NM_022089.4(ATP13A2):c.2972G>A (p.Arg991Gln) rs145548316 0.00050
NM_022089.4(ATP13A2):c.1039+6C>T rs565724504 0.00035
NM_000391.4(TPP1):c.7C>A (p.Leu3Ile) rs142163063 0.00025
NM_000391.4(TPP1):c.1425G>A (p.Ser475=) rs779333902 0.00005
NM_001909.5(CTSD):c.1183A>G (p.Thr395Ala) rs778724059 0.00004
NM_022089.4(ATP13A2):c.1542+3G>A rs747456787 0.00004
NM_022089.4(ATP13A2):c.2640C>T (p.Ala880=) rs567287489 0.00004
NM_022089.4(ATP13A2):c.2746G>A (p.Val916Met) rs768674400 0.00004
NM_001371596.2(MFSD8):c.343G>A (p.Val115Met) rs183450731 0.00003
NM_003793.4(CTSF):c.587G>A (p.Arg196Gln) rs143814748 0.00002
NM_017882.3(CLN6):c.482C>T (p.Thr161Met) rs757734645 0.00002
NM_017882.3(CLN6):c.407G>A (p.Arg136His) rs769701646 0.00001
NM_000391.4(TPP1):c.1243G>A (p.Val415Met) rs2134591998
NM_001371596.2(MFSD8):c.5C>T (p.Ala2Val) rs867524398
NM_003793.4(CTSF):c.160C>A (p.Arg54=) rs776443007
NM_018941.4(CLN8):c.98T>C (p.Val33Ala) rs1301388199

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