ClinVar Miner

List of variants studied for autosomal recessive disease by Department of Pathology and Laboratory Medicine, Sinai Health System

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_000506.5(F2):c.*97G>A rs1799963 0.00979
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile) rs146722795 0.00506
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954 0.00227
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_022464.5(SIL1):c.1039G>A (p.Glu347Lys) rs73265454 0.00073
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys) rs138089183 0.00051
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000277.3(PAH):c.299A>G (p.His100Arg) rs148393887 0.00035
NM_201384.3(PLEC):c.10105G>T (p.Val3369Leu) rs201373953 0.00032
NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val) rs35352891 0.00011
NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter) rs766420907 0.00006
NM_001048174.2(MUTYH):c.900C>T (p.Asp300=) rs587780752 0.00003
NM_002485.5(NBN):c.104T>C (p.Ile35Thr) rs587780773 0.00002
NM_000271.5(NPC1):c.1947+4A>G rs577147812 0.00001
NM_001048174.2(MUTYH):c.1031C>G (p.Ser344Cys) rs763862261 0.00001
NM_001048174.2(MUTYH):c.36C>T (p.His12=) rs776396492 0.00001
NM_182961.4(SYNE1):c.12272A>G (p.Asp4091Gly) rs767294741 0.00001
NM_000253.4(MTTP):c.-149C>A rs886058955
NM_000271.5(NPC1):c.1947+2T>G rs764472245
NM_000271.5(NPC1):c.1947+6_1947+7del rs2058767020
NM_000297.4(PKD2):c.670del (p.Leu224fs) rs1553924173
NM_001009944.2(PKD1):c.8017-?_8161+?dup
NM_001009944.3(PKD1):c.6994_7000dup (p.Val2334fs) rs1555453872
NM_001048174.2(MUTYH):c.116-55C>T rs1316542179
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del) rs587778541
NM_001048174.2(MUTYH):c.1393-51_*2del
NM_002485.5(NBN):c.2071-1175_2184+2del
NM_002485.5(NBN):c.804G>T (p.Thr268=) rs141443872
Single allele

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