ClinVar Miner

List of variants reported by Human Development and Health, University of Southampton

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_005527.4(HSPA1L):c.1673A>C (p.Glu558Ala) rs2227955 0.04242
NM_005527.4(HSPA1L):c.802G>A (p.Ala268Thr) rs34620296 0.00157
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_005527.4(HSPA1L):c.800C>T (p.Thr267Ile) rs139868987 0.00019
NM_005527.4(HSPA1L):c.515_517del (p.Leu172del) rs750447828 0.00011
NM_001267550.2(TTN):c.63793G>A (p.Asp21265Asn) rs794729474 0.00003
NM_000393.5(COL5A2):c.961-10T>G rs770126461 0.00001
NM_005527.4(HSPA1L):c.229G>A (p.Gly77Ser) rs368138379 0.00001
NM_000088.4(COL1A1):c.2644C>T (p.Arg882Ter) rs72653147
NM_001083962.2(TCF4):c.550-3C>G rs2146266048
NM_001267550.2(TTN):c.49346-1G>A rs869312070
NM_004415.4(DSP):c.5510A>G (p.Asn1837Ser) rs2113698012
NM_005157.6(ABL1):c.1009G>A (p.Ala337Thr) rs1060499548
NM_005157.6(ABL1):c.1297G>A (p.Ala433Thr) rs1831388695
NM_005157.6(ABL1):c.1517T>C (p.Val506Ala) rs1831432776
NM_005157.6(ABL1):c.1525G>A (p.Glu509Lys) rs1831433011
NM_005157.6(ABL1):c.674T>C (p.Val225Ala) rs1831097660
NM_006180.6(NTRK2):c.287+3G>C rs1449585956
NM_006950.3(SYN1):c.838-2A>G rs2147913419
NM_198253.3(TERT):c.3157+3A>G rs369807900
NM_198253.3(TERT):c.3295+5G>T rs2126559305

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