ClinVar Miner

List of variants reported as likely pathogenic by Medical Molecular Genetics Department, National Research Center

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000235.4(LIPA):c.1122T>G (p.His374Gln)
NM_000271.5(NPC1):c.3507C>G (p.Ser1169Arg) rs2058596611
NM_000271.5(NPC1):c.3590C>T (p.Ser1197Phe) rs1234099104
NM_000487.6(ARSA):c.179G>C (p.Arg60Pro) rs750005732
NM_000487.6(ARSA):c.335T>A (p.Val112Asp) rs2082690324
NM_000487.6(ARSA):c.371G>A (p.Gly124Asp) rs2082689435
NM_000487.6(ARSA):c.827C>A (p.Thr276Lys) rs74315472
NM_000487.6(ARSA):c.931G>C (p.Gly311Arg) rs74315459
NM_001004051.4(GPRASP2):c.2363G>T (p.Ser788Ile)
NM_001042492.3(NF1):c.1A>C (p.Met1Leu) rs1060500252
NM_001042492.3(NF1):c.2521A>C (p.Thr841Pro) rs2067066952
NM_001257096.2(PAX1):c.1212dup (p.Gly405fs)
NM_001371623.1(TCOF1):c.3388del (p.Leu1130fs)
NM_001371623.1(TCOF1):c.3679_3697delinsCTCTGG (p.Asp1227fs) rs2151059839
NM_001371623.1(TCOF1):c.3987_3988del (p.Lys1330fs) rs2151100918
NM_001371623.1(TCOF1):c.4369_4372del (p.Glu1457fs)
NM_001849.4(COL6A2):c.1269_1270insCATCATCCCTCTACATTTTTTAACCAAATCAACAACAACCTATTTAGCTGTTCCCCAACCTTTTCCTCCGACAGCCG (p.Gly424fs)
NM_002615.7(SERPINF1):c.1216C>T (p.Leu406Phe) rs1597357758
NM_002615.7(SERPINF1):c.559C>T (p.Gln187Ter) rs1597352358
NM_004183.4(BEST1):c.365G>C (p.Arg122Pro) rs767103810
NM_004183.4(BEST1):c.424_426dup (p.Ser142dup) rs1591284563
NM_013450.4(BAZ2B):c.2813del (p.Ile938fs) rs2149798268
NM_015972.4(POLR1D):c.60dup (p.Gly21fs)
NM_020919.4(ALS2):c.1250C>A (p.Ser417Ter)
NM_020919.4(ALS2):c.3516_3517delinsT (p.Glu1173fs)
NM_021939.4(FKBP10):c.106C>A (p.Pro36Thr) rs1597902342
NM_021939.4(FKBP10):c.134T>A (p.Val45Asp) rs1374482728
NM_021939.4(FKBP10):c.370G>T (p.Gly124Cys) rs1597905563

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