ClinVar Miner

List of variants reported as likely benign for central nervous system malformation by Natera, Inc.

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu) rs57932685 0.00251
NM_016955.4(SEPSECS):c.780A>G (p.Ser260=) rs61747281 0.00120
NM_020320.5(RARS2):c.456T>C (p.Asn152=) rs141374913 0.00070
NM_003384.3(VRK1):c.1020C>T (p.Asp340=) rs147853760 0.00066
NM_020320.5(RARS2):c.78A>C (p.Thr26=) rs138360045 0.00046
NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile) rs201614099 0.00042
NM_020320.5(RARS2):c.1637C>T (p.Pro546Leu) rs142348911 0.00026
NM_020320.5(RARS2):c.207A>G (p.Ala69=) rs568483789 0.00025
NM_020320.5(RARS2):c.1512-6T>C rs185924037 0.00022
NM_020320.5(RARS2):c.6G>A (p.Ala2=) rs371542506 0.00018
NM_003384.3(VRK1):c.216+8A>G rs369680885 0.00016
NM_003384.3(VRK1):c.906C>T (p.Tyr302=) rs528346065 0.00016
NM_016955.4(SEPSECS):c.45G>A (p.Pro15=) rs77226826 0.00014
NM_016955.4(SEPSECS):c.84T>C (p.His28=) rs532571185 0.00014
NM_003384.3(VRK1):c.759A>G (p.Gln253=) rs150534939 0.00012
NM_001173990.3(TMEM216):c.420T>C (p.Ala140=) rs749351351 0.00006
NM_003384.3(VRK1):c.576+8T>C rs368495945 0.00006
NM_020320.5(RARS2):c.15T>A (p.Phe5Leu) rs545377358 0.00006
NM_003384.3(VRK1):c.663C>T (p.His221=) rs376006178 0.00004
NM_020320.5(RARS2):c.245G>A (p.Ser82Asn) rs749061654 0.00004
NM_020320.5(RARS2):c.444C>T (p.Thr148=) rs201596004 0.00004
NM_001173990.3(TMEM216):c.405G>A (p.Glu135=) rs748486939 0.00003
NM_020320.5(RARS2):c.1170C>T (p.Val390=) rs780796866 0.00002
NM_020320.5(RARS2):c.660A>C (p.Ala220=) rs553502877 0.00001
NM_020320.5(RARS2):c.885A>G (p.Gly295=) rs769636930 0.00001
NM_003384.3(VRK1):c.690C>T (p.Ile230=) rs747694940
NM_020320.5(RARS2):c.1587-10C>G rs531179961
NM_020320.5(RARS2):c.888G>A (p.Thr296=) rs145189950
NM_020320.5(RARS2):c.888G>C (p.Thr296=) rs145189950

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