ClinVar Miner

List of variants reported as likely pathogenic for autosomal recessive disease by Centogene AG - the Rare Disease Company

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00029
NM_002693.3(POLG):c.2857C>T (p.Arg953Cys) rs11546842 0.00011
NM_000370.3(TTPA):c.552G>A (p.Thr184=) rs181109321 0.00002
NM_000318.3(PEX2):c.-17-2A>G rs1289852067 0.00001
NM_014797.3(ZBTB24):c.1369C>T (p.Arg457Ter) rs387907106 0.00001
NM_000091.5(COL4A3):c.305del (p.Ser102fs) rs2069242131
NM_000092.5(COL4A4):c.594+1G>A rs1553690565
NM_000124.4(ERCC6):c.543+1G>T rs1837448977
NM_000271.5(NPC1):c.1286T>G (p.Val429Gly)
NM_000271.5(NPC1):c.1339C>A (p.Gln447Lys)
NM_000271.5(NPC1):c.1510_1512del (p.Phe504del)
NM_000271.5(NPC1):c.1615G>A (p.Gly539Arg)
NM_000271.5(NPC1):c.1780_1782del (p.Tyr594del)
NM_000271.5(NPC1):c.2027G>T (p.Ser676Ile)
NM_000271.5(NPC1):c.2365C>G (p.Arg789Gly) rs1555633697
NM_000271.5(NPC1):c.2695T>C (p.Tyr899His)
NM_000271.5(NPC1):c.2758G>A (p.Val920Met)
NM_000271.5(NPC1):c.2770T>C (p.Phe924Leu)
NM_000271.5(NPC1):c.2795+56C>T rs2058685029
NM_000271.5(NPC1):c.2882_2897delinsG (p.Asn961_Phe966delinsSer)
NM_000271.5(NPC1):c.3154_3156del (p.Ile1052del)
NM_000271.5(NPC1):c.3265G>C (p.Glu1089Gln)
NM_000271.5(NPC1):c.3279CAT[1] (p.Ile1095del)
NM_000271.5(NPC1):c.3314C>A (p.Ser1105Tyr)
NM_000271.5(NPC1):c.338G>A (p.Cys113Tyr)
NM_000271.5(NPC1):c.3490T>C (p.Ser1164Pro)
NM_000271.5(NPC1):c.3614C>T (p.Thr1205Ile)
NM_000271.5(NPC1):c.3732_3735del (p.Pro1245fs)
NM_000271.5(NPC1):c.392dup (p.Asp131fs)
NM_000271.5(NPC1):c.497C>A (p.Pro166His)
NM_000271.5(NPC1):c.529T>C (p.Cys177Arg)
NM_000271.5(NPC1):c.532G>A (p.Gly178Arg)
NM_000271.5(NPC1):c.551G>C (p.Cys184Ser)
NM_000271.5(NPC1):c.574T>C (p.Tyr192His)
NM_000271.5(NPC1):c.803_805dup (p.Met268_Tyr269insLeu)
NM_002292.4(LAMB2):c.4276dup (p.Ala1426fs) rs2045366127
NM_003384.3(VRK1):c.1066A>T (p.Lys356Ter) rs1223645705
NM_003384.3(VRK1):c.706G>A (p.Val236Met) rs771364038
NM_005199.5(CHRNG):c.351-9T>C rs764382582
NM_005807.6(PRG4):c.2247del (p.Ala750fs) rs1656851989
NM_005807.6(PRG4):c.3254_3260dup (p.Val1088fs) rs769917456
NM_005807.6(PRG4):c.3462_3465del (p.Thr1155fs) rs768053349
NM_006907.4(PYCR1):c.219_220dup (p.Ile74fs) rs2041157497
NM_006984.5(CLDN10):c.653del (p.Pro218fs) rs2043960821
NM_015910.7(WDPCP):c.253+2T>C rs1700584499
NM_016194.4(GNB5):c.1032C>A (p.Tyr344Ter) rs749597091
NM_020680.4(SCYL1):c.1386+1G>T rs201581270
NM_022089.4(ATP13A2):c.1837C>T (p.Gln613Ter) rs2100785804
NM_032119.4(ADGRV1):c.17518del (p.Tyr5840fs) rs1766797963
NM_177400.3(NKX6-2):c.196del (p.Arg66fs) rs1554961118
NM_177400.3(NKX6-2):c.608G>A (p.Trp203Ter) rs1565019928

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